Search filters

List of works by Chong Kun Cheon

A Rare Cause of Life-Threatening Ketoacidosis: Novel Compound Heterozygous Mutations Causing Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency

scientific article published on 01 March 2019

A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.

scientific article

A case of partial trisomy 20p resulting from meiotic recombination of a maternal pericentric inversion.

scientific article published on 20 December 2011

A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome

scientific article

A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature

scientific article

A phase II feasibility study of weekly paclitaxel in heavily pretreated advanced gastric cancer patients with poor performance status

scientific article published on 14 December 2009

A phase II study of a combined biweekly irinotecan and monthly cisplatin treatment for metastatic or recurrent gastric cancer.

scientific article published in February 2010

A randomized phase 2 study of docetaxel and S-1 versus docetaxel and cisplatin in advanced gastric cancer with an evaluation of SPARC expression for personalized therapy

scientific article published on 29 November 2010

A rare case of multiple pituitary adenomas in an adolescent Cushing disease presenting as a vertebral compression fracture.

scientific article published on 28 September 2017

Association of Obesity or Overweight with Bone Health in Childhood and Adolescence: Another Health Risk Never to Be Underestimated

scientific article published on October 2017

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene.

scientific article published on 2 October 2017

Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy

scientific article

Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases ⬇️

scientific article (publication date: 9 May 2011)

Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency

scientific article

Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature

scientific article published on 03 July 2021

Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome

scientific article published on 03 December 2018

Considerations for evaluating the effectiveness and long-term outcome of enzyme replacement therapy in Pompe disease

scientific article published on 07 August 2019

Delineation of the genetic and clinical spectrum, including candidate genes, of monogenic diabetes: a multicenter study in South Korea

scientific article published on 08 October 2020

Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies

scientific article

Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism

scientific article published on 19 September 2015

Docetaxel versus paclitaxel combined with 5-FU and leucovorin in advanced gastric cancer: combined analysis of two phase II trials

scientific article

Evaluation and management of amenorrhea related to congenital sex hormonal disorders

scientific article published on 30 September 2019

Functional Characterization of Gomisin N in High-Fat-Induced Drosophila Obesity Models

scientific article published on 29 September 2020

Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome

scientific article

High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.

scientific article

Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.

scientific article published on 17 April 2014

Incidence trends and associated factors of diabetes mellitus in Korean children and adolescents: a retrospective cohort study in Busan and Gyeongnam.

scientific article

Kabuki syndrome: clinical and molecular characteristics

scientific article

Melkersson-Rosenthal syndrome with Hashimoto thyroiditis in a 9-year-old girl: an autoimmune disorder

scientific article published on 07 January 2014

NEU1 mutation in a Korean infant with type 2 sialidosis presenting as isolated fetal ascites.

scientific article published on 12 September 2014

Neurofibromatosis type 1: a single center's experience in Korea.

scientific article

Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency

scientific article published on July 2016

Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.

scientific article published on May 2010

Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients

scientific article published on 13 June 2014

OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.

scientific article published on 29 May 2014

Practical approach to steroid 5alpha-reductase type 2 deficiency.

scientific article published on 28 March 2010

Prader-Willi syndrome: a single center's experience in Korea

scientific article

The PRSS1 c.623G>C (p.G208A) mutation is the most common PRSS1 mutation in Korean children with hereditary pancreatitis

scientific article published on 29 April 2014

The common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndrome

scientific article published on 04 August 2009

The first Korean case of HDR syndrome confirmed by clinical and molecular investigation.

scientific article published in January 2015

Three cases of pediatric patients with testicular microlithiasis showing gynecomastia and testicular enlargement.

scientific article published on 3 October 2013

Two adolescent patients with coexistent Graves' disease and Moyamoya disease in Korea.

scientific article

Understanding of type 1 diabetes mellitus: What we know and where we go

scientific article published on 04 October 2018

Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease

scientific article published on 22 October 2015

Vitamin D receptor gene polymorphisms and type 1 diabetes mellitus in a Korean population.

scientific article published on 6 July 2015

Paulina is supported by:

About Paulina

Help