List of works - Chang-Seok Ki

A Case of Antenatal Bartter Syndrome with Sensorineural Deafness ⬇️

scientific article published on October 1, 2010

A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene

scientific article published on November 2017

A Case of Restrictive Dermopathy with Novel ZMPSTE24 Gene Mutation

article

A KCNQ1 mutation causes age-dependant bradycardia and persistent atrial fibrillation

scientific article

A Korean Parkinson's disease family with the LRRK2 p.Tyr1699Cys mutation showing clinical heterogeneity.

scientific article

A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin-Siris Syndrome

scientific article published on 01 May 2021

A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

scientific article published on May 2017

A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss

scientific article published on 01 May 2020

A Rare Extracellular D631Y Germl ine Mutation of the RET Proto-Oncogene in Two Korean Families with Multiple Endocrine Neoplasia 2A

scientific article published on 01 June 2006

A case of Bacteroides pyogenes bacteremia secondary to liver abscess.

scientific article published on 7 September 2016

A case of disseminated Penicillium marneffei infection in a liver transplant recipient

scientific article published in August 2010

A comparison of the ghent and revised ghent nosologies for the diagnosis of marfan syndrome in an adult korean population

scientific article published on 07 December 2011

A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis

article

A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects

scientific article published on 17 March 2020

A novel B(var) allele (547 G>A) demonstrates differential expression depending on the co-inherited ABO allele

scientific article published on 01 October 2004

A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections

article

A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis

scientific article published on 26 December 2009

A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy

scientific article published in October 2008

A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome

scientific article published on 27 August 2013

A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm

scientific article published on 8 March 2019

A novel UMOD mutation (c.187T>C) in a Korean family with juvenile hyperuricemic nephropathy

scientific article published on 24 June 2013

A novel codon4 mutation (A4F) in the SOD1gene in familial amyotrophic lateral sclerosis.

scientific article published on 14 April 2011

A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.

scientific article

A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia

scientific article (publication date: 2002)

A novel missense mutation in GCH1 gene in a Korean family with Segawa disease.

scientific article published on 16 June 2014

A novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIB.

scientific article published on 17 April 2013

A novel mutation W252X in the WAS gene in a Korean patient with Wiskott-Aldrich syndrome

scientific article

A novel mutation in the GATA1 gene associated with acute megakaryoblastic leukemia in a Korean Down syndrome patient.

scientific article published on 24 December 2008

A novel mutation in the MECP2 gene in a Korean patient with Rett syndrome ⬇️

scientific article published on January 1, 2011

A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness

scientific article published in May 2004

A novel splice site mutation in the PAX6 gene in a Korean family with isolated aniridia

scientific article published on January 2015

ANXA11 mutations in ALS cause dysregulation of calcium homeostasis and stress granule dynamics

scientific article published on 01 October 2020

Acquired Gitelman Syndrome in a Patient With Primary Sjögren Syndrome

scientific article published on 21 September 2008

Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment

scientific article published on January 2017

Alpha-1 antichymotrypsin and alpha-2 macroglobulin gene polymorphisms are not associated with Korean late-onset Alzheimer's disease

article

Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration in Association With CADASIL ⬇️

scientific article published on March 1, 2012

Analysis of ATXN2 trinucleotide repeats in Korean patients with amyotrophic lateral sclerosis

scientific article published on 23 March 2018

Analysis of dementia-related gene variants in APOE ε4 noncarrying Korean patients with early-onset Alzheimer's disease

scientific article published on 22 May 2019

Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis

scientific article published in April 2013

Apolipoprotein e4 affects topographical changes in hippocampal and cortical atrophy in Alzheimer's disease dementia: a five-year longitudinal study

scientific article published on January 2015

Application of whole exome sequencing to a rare inherited metabolic disease with neurological and gastrointestinal manifestations: a congenital disorder of glycosylation mimicking glycogen storage disease

scientific article published on 11 February 2015

Are there any ethnic differences in molecular predictors of erlotinib efficacy in advanced non-small cell lung cancer?

scientific article published in June 2008

Association between changes in N-terminal pro-brain natriuretic peptide levels and changes in left ventricular mass index in stable hemodialysis patients

scientific article published on 25 September 2008

Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis.

scientific article

Associations between BRCA Mutations in High-Risk Breast Cancer Patients and Familial Cancers Other than Breast or Ovary ⬇️

scientific article published on September 28, 2012

Ataxia-telangiectasia with novel splicing mutations in the ATM gene

scientific article published on 6 December 2013

Atypical hereditary sensory and autonomic neuropathy type IV with neither mental retardation nor pain insensitivity

scientific article published on 30 October 2012

Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation

scientific article

Atypical presentations of MERS-CoV infection in immunocompromised hosts

scientific article published on 23 May 2017

BRAFV600E mutation analysis in fine-needle aspiration cytology specimens for evaluation of thyroid nodule: a large series in a BRAFV600E-prevalent population.

scientific article published on 25 May 2010

Bronchiectasis and Recurrent Respiratory Infections with a Gain-of-Function Variant: First Case in Korea

scientific article published on 01 October 2018

COVID-19 Testing in South Korea: Current Status and the Need for Faster Diagnostics

scientific article published on 31 March 2020

Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population

scientific article published on 01 July 2020

Carrier frequency of the R778L, A874V, and N1270S mutations in the ATP7B gene in a Korean population

scientific article published in April 2009

Carrier woman of Duchenne muscular dystrophy mimicking inflammatory myositis

scientific article

Catheter-related bloodstream infection by Lindnera fabianii in a neutropenic patient

scientific article published on 8 March 2013

Cav-1 (Caveolin-1) and Arterial Remodeling in Adult Moyamoya Disease

scientific article published on 01 November 2018

Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders

scientific article published on 01 September 2019

Challenges in assessing pathogenicity based on frequency of variants in mismatch repair genes: an extreme case of a MSH2 variant and a meta-analysis.

scientific article

Changing Epidemiology of Nontuberculous Mycobacterial Lung Diseases in a Tertiary Referral Hospital in Korea between 2001 and 2015.

scientific article published on 19 February 2018

Characteristics of neurological Wilson's disease without Kayser-Fleischer ring

scientific article

Clinical Characteristics and Genotype-Phenotype Correlation of Korean Patients with Spinal and Bulbar Muscular Atrophy

scientific article published on July 2015

Clinical Characteristics and Treatment Outcomes of Patients with Acquired Macrolide-resistant Mycobacterium abscessus Lung Disease

scientific article

Clinical Characteristics of Marfan Syndrome in Korea

scientific article published on 24 October 2016

Clinical Characteristics, Treatment Outcomes, and Resistance Mutations Associated with Macrolide-Resistant Mycobacterium avium Complex Lung Disease

scientific article published on 29 August 2016

Clinical Features and Gene Analysis in Korean Patients With Early-Onset Parkinson Disease

article

Clinical and endocrine characteristics and genetic analysis of Korean children with McCune-Albright syndrome: a retrospective cohort study

scientific article published on 09 August 2016

Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation.

scientific article published on 23 October 2009

Clinical and genetic analysis of Korean patients with congenital insensitivity to pain with anhidrosis

scientific article published on November 2009

Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia

scientific article published on 4 December 2013

Clinical and genetic analysis of a Korean patient with Fukuyama congenital muscular dystrophy

scientific article published on 25 March 2009

Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome

scientific article

Clinical characteristics and ALB gene mutation analysis of Korean patients with bisalbuminemia

scientific article published in June 2010

Clinical characteristics of familial amyotrophic lateral sclerosis with a Phe20Cys mutation in the SOD1 gene in a Korean family

scientific article published in April 2007

Clinical characterization and molecular classification of 12 Korean patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism

scientific article published on 14 October 2013

Clinical evaluation of micro-scale chip-based PCR system for rapid detection of hepatitis B virus

scientific article

Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome

scientific article published on 24 November 2011

Clinical features and genetic analysis of children with hyperekplexia in Korea

scientific article published on 24 April 2012

Clinical implication of highly sensitive detection of the BRAF V600E mutation in fine-needle aspirations of thyroid nodules: a comparative analysis of three molecular assays in 4585 consecutive cases in a BRAF V600E mutation-prevalent area.

scientific article

Clinical manifestations in paroxysmal kinesigenic dyskinesia patients with proline-rich transmembrane protein 2 gene mutation.

scientific article published on 6 January 2014

Clinical significance of Mycobacterium szulgai isolates from respiratory specimens.

scientific article published on 20 December 2013

Clinical significance of smear positivity for acid-fast bacilli after ≥5 months of treatment in patients with drug-susceptible pulmonary tuberculosis

scientific article published on August 2016

Clinical, biochemical, and genetic analysis of a Korean neonate with hereditary tyrosinemia type 1.

scientific article published in January 2009

Clover-shaped advancement flap for correction of short and broad columella in a patient with frontorhiny

scientific article published in February 2014

Combined use of myeloid-related protein 8/14 and procalcitonin as diagnostic markers for acute allograft rejection in kidney transplantation recipients

scientific article

Comparative Evaluation Between the RealStar Pneumocystis jirovecii PCR Kit and the AmpliSens Pneumocystis jirovecii (carinii)-FRT PCR Kit for Detecting P. jirovecii in Non-HIV Immunocompromised Patients

scientific article published on 01 March 2019

Comparison between DiaPlexQ™ STI6 and GeneFinder™ STD I/STD II multiplex Real-time PCR Kits in the detection of six sexually transmitted disease pathogens

article

Comparison of aortic dissection in korean patients with versus without the marfan syndrome

scientific article published on 29 November 2011

Comparison of the AdvanSure™ real-time RT-PCR and Seeplex(®) RV12 ACE assay for the detection of respiratory viruses

scientific article published on 13 August 2015

Comparison of the Anyplex(TM) II RV16 and Seeplex(®) RV12 ACE assays for the detection of respiratory viruses.

scientific article published on 20 February 2014

Comparison of the Effect of Aliskiren Versus Negative Controls on Aortic Stiffness in Patients With Marfan Syndrome Under Treatment With Atenolol

scientific article published on 29 November 2017

Comparison of the Xpert MTB/RIF and Cobas TaqMan MTB assays for detection of Mycobacterium tuberculosis in respiratory specimens

scientific article published on 17 July 2013

Comparison of the digene HPV genotyping LQ test and the PANArray HPV genotyping chip for detection of high-risk or probable high-risk human papillomavirus genotypes

scientific article

Comparison of two new plastic tubes (Sekisui INSEPACK and Green Cross Green Vac-Tube) with BD Vacutainer tubes for 49 analytes

scientific article

Compound Heterozygous Pathogenic Variants of the 15-Hydroxyprostaglandin Dehydrogenase Gene in a Patient With Hypertrophic Osteoarthropathy: First Case in Korea

article

Control of an Outbreak of Middle East Respiratory Syndrome in a Tertiary Hospital in Korea

scientific article published on 7 June 2016

Cornelia de Lange Syndrome with NIPBL Gene Mutation: A Case Report ⬇️

scientific article published on November 24, 2010

Correct use of repeated measures analysis of variance.

scientific article published on February 2009

De novo FUS mutations in 2 Korean patients with sporadic amyotrophic lateral sclerosis

scientific article published in March 2015

De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea

scientific article published on 26 November 2018

Deep anterior lamellar keratoplasty in Korean patients with Avellino dystrophy

scientific article

Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy

scientific article published on 01 July 2020

Development of Crohn's Disease in a Child With SLC26A3-related Congenital Chloride Diarrhea: Report of the First Case in East Asia and a Novel Missense Variant

scientific article published on 01 March 2021

Development of Macrolide Resistance and Reinfection in Refractory Mycobacterium avium Complex Lung Disease

scientific article published on 01 November 2018

Diagnostic utility of a multiplex RT-PCR assay in detecting fusion transcripts from recurrent genetic abnormalities of acute leukemia by WHO 2008 classification

scientific article published in March 2012

Differences in drug susceptibility pattern between Mycobacterium avium and Mycobacterium intracellulare isolated in respiratory specimens

scientific article

Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia

scientific article

Directly converted patient-specific induced neurons mirror the neuropathology of FUS with disrupted nuclear localization in amyotrophic lateral sclerosis

scientific article

Discrepancy in genotyping of apolipoprotein E between allele-specific PCR and fluorescence resonance energy transfer or sequencing.

scientific article published in June 2010

Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population

scientific article published on 25 October 2013

Distribution and clinical significance of Mycobacterium avium complex species isolated from respiratory specimens

scientific article

Distribution of nontuberculous mycobacteria by multigene sequence-based typing and clinical significance of isolated strains

scientific article published on 05 February 2014

Diversity of ampicillin resistance genes and antimicrobial susceptibility patterns in Haemophilus influenzae strains isolated in Korea.

scientific article

Dopa-responsive dystonia with a novel initiation codon mutation in the GCH1 gene misdiagnosed as cerebral palsy.

scientific article

Drug susceptibility patterns of Mycobacterium abscessus and Mycobacterium massiliense isolated from respiratory specimens

scientific article published on 29 August 2018

Effects of 7 hemoglobin variants on the measurement of glycohemoglobin by 14 analytical methods

scientific article published on 05 October 2007

Effects of APOE ε4 on brain amyloid, lacunar infarcts, and white matter lesions: a study among patients with subcortical vascular cognitive impairment

scientific article published on 12 June 2013

Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population.

scientific article

Evaluation of Cobas TaqMan MTB PCR for detection of Mycobacterium tuberculosis

scientific article published on 3 November 2010

Evaluation of Imprecision for Analysis of Short Tandem Repeats by Use of Mixed Blood Cells in Variable Concentrations

scientific article published on 01 November 2004

Evaluation of PCR-based screening for vancomycin-resistant enterococci compared with a chromogenic agar-based culture method

scientific article

Evaluation of mutation profiling by matrix-assisted laser desorption ionization time-of-flight (MALDI-TOF) mass spectrometry in fine needle aspirations from papillary thyroid cancer

scientific article published on 01 July 2014

Evaluation of the Anyplex BRAF V600E real-time detection assay using dual-priming oligonucleotide technology in fine-needle aspirates of thyroid nodules

scientific article

Evaluation of the effects of VKORC1 polymorphisms and haplotypes, CYP2C9 genotypes, and clinical factors on warfarin response in Sudanese patients

scientific article published on 18 May 2011

Evaluation of the iNtRON VRE vanA/vanB real-time PCR assay for detection of vancomycin-resistant enterococci

scientific article published on 8 December 2014

Evaluation of the illumigene C. difficile assay for toxigenic Clostridium difficile detection: a prospective study of 302 consecutive clinical fecal samples.

scientific article published on 2 September 2014

Evaluation of three real-time PCR assays for differential identification of Mycobacterium tuberculosis complex and nontuberculous mycobacteria species in liquid culture media

scientific article published on 15 March 2016

Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature

article

Fibrillin-1 Gene Analysis of Korean Patients With Spontaneous CSF Hypovolemia

article

First Case ofBartonella quintanaEndocarditis in Korea ⬇️

scientific article published on October 30, 2012

First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review

scientific article published on May 2016

First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea

scientific article published on 01 August 2018

First case of nontuberculous mycobacterial lung disease caused by Mycobacterium marseillense in a patient with systemic lupus erythematosus.

scientific article

Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.

scientific article published on 8 February 2013

Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience

scientific article published on 01 March 2020

Frequencies of 10 autosomal minor histocompatibility antigens in Korean population and estimated disparities in unrelated hematopoietic stem cell transplantation.

scientific article

Frequency and significance of rare RNF213 variants in patients with adult moyamoya disease

scientific article

Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes

scientific article published on 9 April 2015

Frequency of DMPK mutation carriers in Korean women of childbearing age.

scientific article published on 26 November 2013

Frequency of FMR1 premutation carriers and rate of expansion to full mutation in a retrospective diagnostic FMR1 Korean sample

scientific article

Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individuals

scientific article published on 20 November 2015

From Genetic Testing to Treatment and Prevention of BRCA-Related Breast Cancer

scientific article published on 01 March 2020

Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea

scientific article published in August 2010

Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia

scientific article

Genetic analysis of dystrophin gene for affected male and female carriers with Duchenne/Becker muscular dystrophy in Korea.

scientific article published on 23 February 2012

Genetic and functional analysis of TBK1 variants in Korean patients with sporadic amyotrophic lateral sclerosis

scientific article published on 19 November 2016

Genetic association of an apolipoprotein C-I (APOC1) gene polymorphism with late-onset Alzheimer's disease

scientific article published in February 2002

Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort

scientific article

Genetic basis of Prader-Willi syndrome in Korea: less uniparental disomy than has been recognized?

article

Genetic investigation of patients with undetectable peaks of growth hormone after two provocation tests

scientific article published in February 2013

Genetic mutation in Korean patients of sudden cardiac arrest as a surrogating marker of idiopathic ventricular arrhythmia

scientific article published on 03 July 2013

Genetic polymorphisms of NAT2 and CYP2E1 associated with antituberculosis drug-induced hepatotoxicity in Korean patients with pulmonary tuberculosis

scientific article published in November 2007

GenoType NTM-DR Performance Evaluation for Identification of Mycobacterium avium Complex and Mycobacterium abscessus and Determination of Clarithromycin and Amikacin Resistance

scientific article published on 26 July 2019

Globus pallidus interna deep brain stimulation improves chorea and functional status in a patient with chorea-acanthocytosis

scientific article published on 7 July 2012

Graft-versus-host disease after kidney transplantation

scientific article

Guidelines for the Laboratory Diagnosis of Middle East Respiratory Syndrome Coronavirus in Korea

scientific article

HLA antigens and nontuberculous mycobacterial lung disease in Korean patients

scientific article published on 14 February 2009

Haplotype structure of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene and its relationship to serum total bilirubin concentration in a male Korean population

scientific article

Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis.

scientific article

High oxygen-affinity hemoglobin variant associated with high-level venous oxygen saturation

scientific article published on 01 January 2008

Highly Sensitive and Specific Molecular Test for Mutations in the Diagnosis of Thyroid Nodules: A Prospective Study of BRAF-Prevalent Population

scientific article published on 06 August 2020

Hypoparathyroidism in a 3-year-old Korean boy with Sotos syndrome and a novel mutation in NSD1.

scientific article

Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1.

scientific article published on 14 April 2016

Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II.

scientific article published on 24 February 2011

Identification of ATM Mutations in Korean Siblings with Ataxia-Telangiectasia ⬇️

scientific article published on April 17, 2013

Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing.

scientific article

Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sjögren-Larsson Syndrome

scientific article published in January 2018

Identification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer's disease.

scientific article published on April 2008

Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia

scientific article published on September 2017

Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea

scientific article published on 20 June 2012

Identification of TSC1 and TSC2 Mutations in Korean Patients With Tuberous Sclerosis Complex

scientific article published on 01 April 2012

Identification of a Novel Mutation in the CYBB Gene, p.Asp378Gly, in a Patient With X-linked Chronic Granulomatous Disease

scientific article

Identification of a Rare 3 bp BRAF Gene Deletion in a Thyroid Nodule by Mutant Enrichment with 3'-Modified Oligonucleotides Polymerase Chain Reaction ⬇️

scientific article published on April 18, 2012

Identification of a de novo Lys304Gln mutation in the glycine receptor alpha-1 subunit gene in a Korean infant with hyperekplexia.

scientific article

Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing.

scientific article published on 13 February 2014

Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome

article

Identification of a novel mutation in a Korean patient with oculopharyngeal muscular dystrophy

scientific article published on 01 January 2007

Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia.

scientific article published on 31 May 2014

Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome

scientific article published on 31 January 2014

Identification of a novel mutation in the EYA1 gene in a Korean family with branchio-oto-renal (BOR) syndrome

scientific article published on 8 April 2005

Identification of a novel mutation in the PTCH gene in a Korean family with naevoid basal cell carcinoma syndrome

scientific article

Identification of a novel mutation in the ectodysplasin A gene in a Korean family with X-linked hypohidrotic ectodermal dysplasia

article

Identification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy

article

Identification of an Arg35X mutation in the PDCD10 gene in a patient with cerebral and multiple spinal cavernous malformations

scientific article published on 26 November 2007

Identification of clinical mold isolates by sequence analysis of the internal transcribed spacer region, ribosomal large-subunit D1/D2, and β-tubulin

scientific article published on 23 February 2012

Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.

scientific article published in January 2002

Identification of mucorales from clinical specimens: a 4-year experience in a single institution

scientific article published on January 2016

Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing.

scientific article published on 30 September 2015

Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase α/β subunits in Korean patients with mucolipidosis type II or type IIIA

article

Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease

scientific article published on 10 December 2014

Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors

scientific article published on 16 February 2017

Identification of proteolipid protein 1 gene duplication by multiplex ligation-dependent probe amplification: first report of genetically confirmed family of Pelizaeus-Merzbacher disease in Korea.

scientific article published on April 2008

Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia

scientific article published on 9 January 2011

Identification of somatic KRAS mutation in a Korean baby with nevus sebaceus syndrome

scientific article published on 8 December 2014

Impact of MET amplification on gastric cancer: possible roles as a novel prognostic marker and a potential therapeutic target

scientific article published on 18 March 2011

Impact of epidermal growth factor receptor (EGFR) kinase mutations, EGFR gene amplifications, and KRAS mutations on survival of pancreatic adenocarcinoma

scientific article published on April 2007

Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis

scientific article published on 28 February 2009

Incidence and clinical features of herpes simplex viruses (1 and 2) and varicella-zoster virus infections in an adult Korean population with aseptic meningitis or encephalitis.

scientific article published on 7 March 2014

Incidence and clinical significance of human parvovirus B19 infection in kidney transplant recipients.

scientific article

Incidence and predictive factors of inadequate fine-needle aspirates for BRAF(V600E) mutation analysis in thyroid nodules

scientific article

Incidence of Variant Hemoglobin (Hb) and Increased Fetal Hb Concentrations and Their Effect on Hb A1c Measurement in a Korean Population

scientific article published on 01 July 2006

Increasing Recovery of Nontuberculous Mycobacteria from Respiratory Specimens over a 10-Year Period in a Tertiary Referral Hospital in South Korea

scientific article

Increasing prevalence of imipenem-resistant Pseudomonas aeruginosa and molecular typing of metallo-beta-lactamase producers in a Korean hospital

scientific article published in January 2005

Infantile Pompe disease: clinical and genetic characteristics with an experience of enzyme replacement therapy

scientific article published on 22 September 2011

Interleukin-12 receptor beta1 polymorphisms and nontuberculous mycobacterial lung diseases

scientific article published on 21 May 2008

Intermittent antibiotic therapy for nodular bronchiectatic Mycobacterium avium complex lung disease

scientific article published on January 2015

Ischemia-modified albumin is a highly sensitive serum marker of transient myocardial ischemia induced by coronary vasospasm

scientific article published on 01 March 2007

Isobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screening

article

Isolation and identification of Geosmithia argillacea from a fungal ball in the lung of a tuberculosis patient

scientific article

Isolation of nucleated red blood cells in maternal blood for Non-invasive prenatal diagnosis

scientific article published in December 2015

JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocythemia.

scientific article

Korean Society for Laboratory Medicine Practice Guidelines for the Molecular Diagnosis of Middle East Respiratory Syndrome During an Outbreak in Korea in 2015

scientific article

Laboratory Identification of Leptotrichia Species Isolated From Bacteremia Patients at a Single Institution

scientific article

Lack of a genetic association between the CTLA-4 gene and Graves' disease in Koreans

article

Late-onset vanishing white matter disease with compound heterozygous EIF2B5 gene mutations

scientific article published on 23 December 2008

Letter to the Editor: A Novel Mutation in the CREBBP Gene of a Korean Girl with Rubinstein-Taybi syndrome

scientific article published in July 2015

Little evidence for association of the glaucoma gene MYOC with open-angle glaucoma

scientific article

Long-term natural history of non-cavitary nodular bronchiectatic nontuberculous mycobacterial pulmonary disease

scientific article published on 26 March 2019

Low D4Z4 copy number and gender difference in Korean patients with facioscapulohumeral muscular dystrophy type 1.

scientific article published on 11 August 2015

MERS-CoV outbreak following a single patient exposure in an emergency room in South Korea: an epidemiological outbreak study

scientific article published on 8 July 2016

Malignant intercostal psammomatous melanotic schwannoma in a patient with Carney complex

scientific article published on 15 November 2017

Marked diurnal fluctuation and rest benefit in a patient with parkin mutation

scientific article published in March 2008

Measurement of tyrosine hydroxylase transcripts in bone marrow using biopsied tissue instead of aspirates for neuroblastoma.

scientific article published in August 2010

Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease (RMRP) Gene Variants: The First Case in Korea

scientific article published on 01 May 2021

Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2

scientific article published on 01 March 2007

Molecular analysis of clinical isolates previously diagnosed as Mycobacterium intracellulare reveals incidental findings of "Mycobacterium indicus pranii" genotypes in human lung infection

scientific article published on 30 September 2015

Molecular characterization of enteroviruses isolated from patients with aseptic meningitis in Korea, 2005

scientific article published on 22 January 2007

Molecular characterization of female hemophilia A by multiplex ligation-dependent probe amplification analysis and X-chromosome inactivation study

scientific article

Molecular detection of tyrosine hydroxylase in the peripheral blood of patients with neuroblastoma: useful at diagnosis but not predictive of subsequent relapse during off-therapy follow-up.

scientific article

Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism

article

Multiplex ligation-dependent probe amplification assay for diagnosis of congenital adrenal hyperplasia ⬇️

scientific article published on January 1, 2011

Multiplex ligation-dependent probe amplification screening of isolated increased HbF levels revealed three cases of novel rearrangements/deletions in the beta-globin gene cluster

scientific article published on 5 October 2009

Mutant enrichment with 3'-modified oligonucleotides a practical PCR method for detecting trace mutant DNAs

scientific article published on 14 September 2011

Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria

scientific article published on October 2008

Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia

scientific article

Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles

scientific article published on 22 December 2005

Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles

article

Mutation analysis of the PMP22, MPZ, EGR2, LITAF, and GJB1 genes in Korean patients with Charcot-Marie-Tooth neuropathy type 1.

scientific article published in September 2006

Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome

article

Mutation spectrum of the ASS1 gene in Korean patients with citrullinemia type I.

scientific article published on 22 October 2012

Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.

scientific article

Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency

scientific article published on 01 January 2012

Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5)

scientific article

Mutations in UBQLN2 and SIGMAR1 genes are rare in Korean patients with amyotrophic lateral sclerosis

scientific article

Mycobacterial infection after intravesical bacillus Calmette-Guërin treatment for bladder cancer: a case report

scientific article published on 28 June 2011

Mycobacteriological characteristics and treatment outcomes in extrapulmonary Mycobacterium abscessus complex infections

scientific article published on 15 May 2017

NRAMP1 gene polymorphism and susceptibility to nontuberculous mycobacterial lung diseases

scientific article published in July 2005

Necrotizing pneumonia and empyema in an immunocompetent patient caused by Nocardia cyriacigeorgica and identified by 16S rRNA and secA1 sequencing

scientific article published on 6 December 2013

No association between the genes for butyrylcholinesterase K variant and apolipoprotein E4 in late-onset Alzheimer's disease

article

Non-Ataxic Phenotypes of SCA8 Mimicking Amyotrophic Lateral Sclerosis and Parkinson Disease

scientific article published on 31 October 2013

Novel CFTR mutations in a Korean infant with cystic fibrosis and pancreatic insufficiency

scientific article

Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family

scientific article published on 17 October 2006

Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity

scientific article

Novel PANK2 gene mutations in korean patient with pantothenate kinase-associated neurodegeneration presenting unilateral dystonic tremor

scientific article published in January 2010

Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing

scientific article published on January 2017

Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.

scientific article published on May 2017

Novel c.300_301delinsT mutation in PITX2 in a Korean family with Axenfeld-Rieger syndrome.

scientific article published on 08 August 2013

Novel interleukin 1beta polymorphism increased the risk of gastric cancer in a Korean population

scientific article published in January 2004

Novel mechanism of a CDH1 splicing mutation in a Korean patient with signet ring cell carcinoma

article

Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2

article

Novel mutations in CEBPA in Korean Patients with acute myeloid leukemia with a normal karyotype.

scientific article published on 23 February 2012

Novel nonsense GNAS mutation in a 14-month-old boy with plate-like osteoma cutis and medulloblastoma.

scientific article

Occlusive vascular Ehlers-Danlos syndrome accompanying a congenital cystic adenomatoid malformation of the lung: report of a case.

scientific article published on 05 October 2012

Optical coherence tomographic findings of crystal deposits in the lens and cornea in Bietti crystalline corneoretinopathy associated with mutation in the CYP4V2 gene.

scientific article published on 22 June 2013

Oral Macrolide Therapy Following Short-term Combination Antibiotic Treatment of Mycobacterium massiliense Lung Disease

scientific article published on 7 May 2016

Osteogenesis Imperfecta Type VI with Severe Bony Deformities Caused by Novel Compound Heterozygous Mutations in SERPINF1 ⬇️

scientific article published on 03 July 2013

Osteogenesis imperfecta Type I caused by a novel mutation in the start codon of the COL1A1 gene in a Korean family

scientific article published in January 2015

PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations

scientific article

PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature.

scientific article published on 04 March 2011

Pantothenate kinase-associated neurodegeneration in Korea: recurrent R440P mutation in PANK2 and outcome of deep brain stimulation

scientific article published on 22 November 2011

Pediatric-onset dystonia associated with bilateral striatal necrosis and G14459A mutation in a Korean family: a case report

scientific article

Performance Evaluation of the Real-Q Cytomegalovirus (CMV) Quantification Kit Using Two Real-Time PCR Systems for Quantifying CMV DNA in Whole Blood

scientific article published on November 2016

Performance evaluation of the Cobas TaqMan MTB assay on respiratory specimens according to clinical application

scientific article published on 4 September 2017

Performance of the Real-Q EBV Quantification Kit for Epstein-Barr Virus DNA Quantification in Whole Blood

scientific article published on March 2017

Polymorphisms of interferon-gamma and interferon-gamma receptor 1 genes and non-tuberculous mycobacterial lung diseases.

scientific article published on 4 October 2006

Presenilin 1 gene mutation (M139I) in a patient with an early-onset Alzheimer's disease: clinical characteristics and genetic identification

scientific article published on 6 March 2010

Prevalence and clinical significance of occult hepatitis B virus infection among renal transplant recipients in Korea

scientific article published on 10 June 2012

Prevalence of fragile X-associated tremor/ataxia syndrome: A survey of essential tremor patients with cerebellar signs or extrapyramidal signs

scientific article published on 03 June 2019

Prospective monitoring of adenovirus infection and type analysis after allogeneic hematopoietic cell transplantation: A single-center study in Korea

scientific article published on 23 March 2018

RET proto-oncogene mutations are restricted to codon 634 and 618 in Korean families with multiple endocrine neoplasia 2A.

scientific article published in October 2004

Rapid detection and identification of 12 respiratory viruses using a dual priming oligonucleotide system-based multiplex PCR assay

scientific article

Rapid determination of chimerism status using dihydrorhodamine assay in a patient with X-linked chronic granulomatous disease following hematopoietic stem cell transplantation.

scientific article published on 24 June 2013

Real-time PCR assay compared with antigenemia assay for detecting cytomegalovirus infection in kidney transplant recipients

scientific article published in June 2007

Reduced levofloxacin susceptibility in clinical respiratory isolates of Haemophilus influenzae is not yet associated with mutations in the DNA gyrase and topoisomerase II genes in Korea.

scientific article

Refining Dynamic Risk Stratification and Prognostic Groups for Differentiated Thyroid Cancer With TERT Promoter Mutations

scientific article published on 28 February 2017

Relationships among serum leptin, leptin receptor gene polymorphisms, and breast cancer in Korea

scientific article published on 11 July 2005

Report on the Project for Establishment of the Standardized Korean Laboratory Terminology Database, 2015.

scientific article published on April 2017

Respiratory viral infections during the first 28 days after transplantation in pediatric hematopoietic stem cell transplant recipients

scientific article

Response to Switch from Intermittent Therapy to Daily Therapy for Refractory Nodular Bronchiectatic Mycobacterium avium Complex Lung Disease

scientific article published on 18 May 2015

Risk stratification on the basis of Deauville score on PET-CT and the presence of Epstein-Barr virus DNA after completion of primary treatment for extranodal natural killer/T-cell lymphoma, nasal type: a multicentre, retrospective analysis

scientific article published on 28 January 2015

SCN1A mutational analysis in Korean patients with Dravet syndrome

scientific article published on 24 August 2011

SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).

scientific article

SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians

scientific article

Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS

scientific article published in May 2012

Sensitization to multiple rh antigens by transfusion of random donor platelet concentrates in a -D- phenotype patient.

scientific article

Sequential array comparative genomic hybridization analysis identifies copy number changes during blastic transformation of chronic myeloid leukemia

scientific article published on 5 February 2012

Silent infarcts demonstrated by diffusion-weighted MRI in CADASIL.

scientific article published on January 2003

Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing

article

Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

scientific article published on 16 October 2013

Spinal Stenosis with Paraparesis in a Korean Boy with Albright's Hereditary Osteodystrophy: Identification of a Novel Nonsense Mutation in the GNAS

scientific article published on 01 January 2015

Spontaneous Pisa syndrome in a patient with early-onset Alzheimer's disease

scientific article published on 06 December 2019

Standardization of terminology in laboratory medicine II

scientific article published on August 2008

Standardized sweat chloride analysis for the diagnosis of cystic fibrosis in Korea

scientific article published in August 2008

Subcutaneous Phaeohyphomycosis Caused by Exophiala salmonis ⬇️

scientific article published on October 17, 2012

Successful bosentan therapy for pulmonary arterial hypertension associated with hereditary hemorrhagic telangiectasia

scientific article published on 4 December 2010

Successful therapeutic plasma exchange in a 3.2-kg body weight neonate with atypical hemolytic uremic syndrome

scientific article

Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome

scientific article published on 7 February 2011

The Ala53Thr mutation in the α-synuclein gene in a Korean family with Parkinson disease

article

The First Korean Case of De Novo Proximal 4p Deletion Syndrome in a Child With Developmental Delay

scientific article published on 01 September 2020

The First Korean Case of Mucopolysaccharidosis IIIC (Sanfilippo Syndrome Type C) Confirmed by Biochemical and Molecular Investigation ⬇️

scientific article published on December 17, 2012

The First Korean Case of Nontuberculous Mycobacterial Lung Disease Caused by Mycobacterium abscessus Subspecies bolletii in a Patient with Bronchiectasis

scientific article published on 29 January 2014

The common NF-κB essential modulator (NEMO) gene rearrangement in Korean patients with incontinentia pigmenti

scientific article

The first case of concurrent infective endocarditis and spondylitis caused by Streptococcus tigurinus

scientific article published in November 2015

The genetic and phenotypic basis of blood group A subtypes in Koreans

scientific article published on 01 August 2005

The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea

scientific article published on 10 January 2013

The relationship between Lewis/Secretor genotypes and serum carbohydrate antigen 19-9 levels in a Korean population

scientific article published in February 2010

The role of pleural fluid MAGE RT-nested PCR in the diagnosis of malignant pleural effusion

scientific article published in November 2012

The usefulness of multidetector computed tomographic angiography for the diagnosis of Marfan syndrome by Ghent criteria

scientific article published on 19 April 2011

Therapy-related myeloid neoplasm in a patient with TP53 mutation: a dilemma in allogeneic stem cell transplant.

scientific article published in June 2010

Three cases of candidiasis misidentified as Candida famata by the Vitek 2 system

scientific article published on 8 December 2014

Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene

scientific article published on 16 September 2011

Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea

scientific article

Two mutations of the C7 gene, c.1424G > A and c.281-1G > T, in two Korean families.

scientific article

Two novel FAH gene mutations in a patient with hereditary tyrosinemia type I.

scientific article published in January 2014

Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence

scientific article published on 25 April 2012

Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy

scientific article

UGT1A7 haplotype is associated with an increased risk of hepatocellular carcinoma in hepatitis B carriers

scientific article published on 01 February 2008

Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant

scientific article

Ultrasonographic prediction of highly aggressive telomerase reverse transcriptase (TERT) promoter-mutated papillary thyroid cancer

scientific article

Ultrasound and clinicopathological features of papillary thyroid carcinomas with BRAF and TERT promoter mutations

scientific article published on 14 November 2017

Upper thoracic myelopathy caused by delayed neck extensor weakness in myotonic dystrophy.

scientific article

Whole blood Epstein-Barr virus DNA load as a diagnostic and prognostic surrogate: extranodal natural killer/T-cell lymphoma

scientific article

List of works by Chang-Seok Ki

A Case of Antenatal Bartter Syndrome with Sensorineural Deafness ⬇️

A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene

A Case of Restrictive Dermopathy with Novel ZMPSTE24 Gene Mutation

A KCNQ1 mutation causes age-dependant bradycardia and persistent atrial fibrillation

A Korean Parkinson's disease family with the LRRK2 p.Tyr1699Cys mutation showing clinical heterogeneity.

A Novel <i>De Novo</i> Heterozygous <i>ARID1A</i> Missense Variant Cluster in <i>cis</i> c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin-Siris Syndrome

A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss

A Rare Extracellular D631Y Germl ine Mutation of the RET Proto-Oncogene in Two Korean Families with Multiple Endocrine Neoplasia 2A

A case of Bacteroides pyogenes bacteremia secondary to liver abscess.

A case of disseminated Penicillium marneffei infection in a liver transplant recipient

A comparison of the ghent and revised ghent nosologies for the diagnosis of marfan syndrome in an adult korean population

A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis

A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects

A novel B(var) allele (547 G>A) demonstrates differential expression depending on the co-inherited ABO allele

A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections

A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis

A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy

A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome

A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm

A novel UMOD mutation (c.187T>C) in a Korean family with juvenile hyperuricemic nephropathy

A novel codon4 mutation (A4F) in the SOD1gene in familial amyotrophic lateral sclerosis.

A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.

A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia

A novel missense mutation in GCH1 gene in a Korean family with Segawa disease.

A novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIB.

A novel mutation W252X in the WAS gene in a Korean patient with Wiskott-Aldrich syndrome

A novel mutation in the GATA1 gene associated with acute megakaryoblastic leukemia in a Korean Down syndrome patient.

A novel mutation in the MECP2 gene in a Korean patient with Rett syndrome ⬇️

A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness

A novel splice site mutation in the PAX6 gene in a Korean family with isolated aniridia

ANXA11 mutations in ALS cause dysregulation of calcium homeostasis and stress granule dynamics

Acquired Gitelman Syndrome in a Patient With Primary Sjögren Syndrome

Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment

Alpha-1 antichymotrypsin and alpha-2 macroglobulin gene polymorphisms are not associated with Korean late-onset Alzheimer's disease

Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration in Association With CADASIL ⬇️

Analysis of ATXN2 trinucleotide repeats in Korean patients with amyotrophic lateral sclerosis

Analysis of dementia-related gene variants in APOE ε4 noncarrying Korean patients with early-onset Alzheimer's disease

Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis

Apolipoprotein e4 affects topographical changes in hippocampal and cortical atrophy in Alzheimer's disease dementia: a five-year longitudinal study

Application of whole exome sequencing to a rare inherited metabolic disease with neurological and gastrointestinal manifestations: a congenital disorder of glycosylation mimicking glycogen storage disease

Are there any ethnic differences in molecular predictors of erlotinib efficacy in advanced non-small cell lung cancer?

Association between changes in N-terminal pro-brain natriuretic peptide levels and changes in left ventricular mass index in stable hemodialysis patients

Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis.

Associations between BRCA Mutations in High-Risk Breast Cancer Patients and Familial Cancers Other than Breast or Ovary ⬇️

Ataxia-telangiectasia with novel splicing mutations in the ATM gene

Atypical hereditary sensory and autonomic neuropathy type IV with neither mental retardation nor pain insensitivity

Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation

Atypical presentations of MERS-CoV infection in immunocompromised hosts

BRAFV600E mutation analysis in fine-needle aspiration cytology specimens for evaluation of thyroid nodule: a large series in a BRAFV600E-prevalent population.

Bronchiectasis and Recurrent Respiratory Infections with a Gain-of-Function Variant: First Case in Korea

COVID-19 Testing in South Korea: Current Status and the Need for Faster Diagnostics

Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population

Carrier frequency of the R778L, A874V, and N1270S mutations in the ATP7B gene in a Korean population

Carrier woman of Duchenne muscular dystrophy mimicking inflammatory myositis

Catheter-related bloodstream infection by Lindnera fabianii in a neutropenic patient

Cav-1 (Caveolin-1) and Arterial Remodeling in Adult Moyamoya Disease

Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders

Challenges in assessing pathogenicity based on frequency of variants in mismatch repair genes: an extreme case of a MSH2 variant and a meta-analysis.

Changing Epidemiology of Nontuberculous Mycobacterial Lung Diseases in a Tertiary Referral Hospital in Korea between 2001 and 2015.

Characteristics of neurological Wilson's disease without Kayser-Fleischer ring

Clinical Characteristics and Genotype-Phenotype Correlation of Korean Patients with Spinal and Bulbar Muscular Atrophy

Clinical Characteristics and Treatment Outcomes of Patients with Acquired Macrolide-resistant Mycobacterium abscessus Lung Disease

Clinical Characteristics of Marfan Syndrome in Korea

Clinical Characteristics, Treatment Outcomes, and Resistance Mutations Associated with Macrolide-Resistant Mycobacterium avium Complex Lung Disease

Clinical Features and Gene Analysis in Korean Patients With Early-Onset Parkinson Disease

Clinical and endocrine characteristics and genetic analysis of Korean children with McCune-Albright syndrome: a retrospective cohort study

Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation.

Clinical and genetic analysis of Korean patients with congenital insensitivity to pain with anhidrosis

Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia

Clinical and genetic analysis of a Korean patient with Fukuyama congenital muscular dystrophy

Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome

Clinical characteristics and ALB gene mutation analysis of Korean patients with bisalbuminemia

Clinical characteristics of familial amyotrophic lateral sclerosis with a Phe20Cys mutation in the SOD1 gene in a Korean family

Clinical characterization and molecular classification of 12 Korean patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism

Clinical evaluation of micro-scale chip-based PCR system for rapid detection of hepatitis B virus

Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome

Clinical features and genetic analysis of children with hyperekplexia in Korea

Clinical implication of highly sensitive detection of the BRAF V600E mutation in fine-needle aspirations of thyroid nodules: a comparative analysis of three molecular assays in 4585 consecutive cases in a BRAF V600E mutation-prevalent area.