List of works - Katarina Trebušak Podkrajšek

A novel L94Q mutation in the CDKN2A gene in a melanoma kindred

article

A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndrome.

scientific article

Association of Average Telomere Length with Body-Mass Index and Vitamin D Status in Juvenile Population with Type 1 Diabetes

scientific article published on 13 March 2015

Association of Glycemic Control and Cell Stress With Telomere Attrition in Type 1 Diabetes

scientific article published on 01 September 2018

Biomarkers of Fabry Nephropathy: Review and Future Perspective

scientific article published on 18 September 2020

Cathepsin C Gene 5'-Untranslated Region Mutation in Papillon-Lefèvre Syndrome

article

Childhood Osteoporosis and Presentation of Two Cases with Osteogenesis Imperfecta Type V.

scientific article published on 13 March 2015

Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines

scientific article

Clinical Role of CYP2C19 Polymorphisms in Patients with Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency

Clinical, Genetic and Immunological Characteristics of Paediatric Autoimmune Polyglandular Syndrome Type 1 Patients in Slovenia

scientific article published on 13 March 2015

Craniofacial characteristics and genotypes of amelogenesis imperfecta patients.

scientific article

DEPTOR promoter genetic variants and insulin resistance in obese children and adolescents

scientific article

Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder

scientific article

Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene

article

GPR143Gene Mutation Analysis In Pediatric Patients With Albinism

article

Genetic polymorphisms in genes encoding antioxidant enzymes are associated with diabetic retinopathy in type 1 diabetes

scientific article published on 14 September 2009

Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (<i>THRB</i>) Gene

scientific article published on 15 December 2020

IL-6-specific autoantibodies among APECED and thymoma patients

scientific article published on 25 May 2016

Interferon autoantibodies associated with AIRE deficiency decrease the expression of IFN-stimulated genes

scientific article published on 07 July 2008

Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency

scientific article published on 21 April 2022

Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening

scientific article published in January 2018

Multifocal gastric adenocarcinoma in a patient with LRBA deficiency.

scientific article

Mutation analysis in mild hyperphenylalaninemia (HPA) patients - whom and what to screen?

scientific article published on 15 November 2013

Next generation sequencing as a follow-up test in an expanded newborn screening programme.

scientific article published on 27 October 2017

Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature

scientific article published in 2021

Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency

article

Painful micturition in a small child: an unusual clinical picture of paroxysmal extreme pain disorder

scientific article published on 12 May 2014

Personalized laboratory medicine: a patient-centered future approach

scientific article published on 01 November 2018

Rare single nucleotide polymorphisms in the regulatory regions of the superoxide dismutase genes in autism spectrum disorder

scientific article published on 23 October 2013

TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss

scientific article published on 3 June 2015

The IVS8-2A>G (c.913-2A>G) mutation and the PAH deficiency populations of Central Europe

The Importance of Early Genetic Diagnostics of Hearing Loss in Children

scientific article published on 14 September 2020

Universal Screening for Familial Hypercholesterolemia in Children

scientific article published on September 2015

X-linked lymphoproliferative disease with a novel SH2D1A gene mutation

scientific article published in January 2008

List of works by Katarina Trebušak Podkrajšek

A novel L94Q mutation in the CDKN2A gene in a melanoma kindred

A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndrome.

Association of Average Telomere Length with Body-Mass Index and Vitamin D Status in Juvenile Population with Type 1 Diabetes

Association of Glycemic Control and Cell Stress With Telomere Attrition in Type 1 Diabetes

Biomarkers of Fabry Nephropathy: Review and Future Perspective

Cathepsin C Gene 5'-Untranslated Region Mutation in Papillon-Lefèvre Syndrome

Childhood Osteoporosis and Presentation of Two Cases with Osteogenesis Imperfecta Type V.

Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines

Clinical Role of CYP2C19 Polymorphisms in Patients with Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency

Clinical, Genetic and Immunological Characteristics of Paediatric Autoimmune Polyglandular Syndrome Type 1 Patients in Slovenia

Craniofacial characteristics and genotypes of amelogenesis imperfecta patients.

DEPTOR promoter genetic variants and insulin resistance in obese children and adolescents

Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder

Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene

GPR143Gene Mutation Analysis In Pediatric Patients With Albinism

Genetic polymorphisms in genes encoding antioxidant enzymes are associated with diabetic retinopathy in type 1 diabetes

Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (<i>THRB</i>) Gene

IL-6-specific autoantibodies among APECED and thymoma patients

Interferon autoantibodies associated with AIRE deficiency decrease the expression of IFN-stimulated genes

Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency

Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening

Multifocal gastric adenocarcinoma in a patient with LRBA deficiency.

Mutation analysis in mild hyperphenylalaninemia (HPA) patients - whom and what to screen?

Next generation sequencing as a follow-up test in an expanded newborn screening programme.

Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature

Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency

Painful micturition in a small child: an unusual clinical picture of paroxysmal extreme pain disorder

Personalized laboratory medicine: a patient-centered future approach

Rare single nucleotide polymorphisms in the regulatory regions of the superoxide dismutase genes in autism spectrum disorder

TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss

The IVS8-2A>G (c.913-2A>G) mutation and the PAH deficiency populations of Central Europe

The Importance of Early Genetic Diagnostics of Hearing Loss in Children

Universal Screening for Familial Hypercholesterolemia in Children

X-linked lymphoproliferative disease with a novel SH2D1A gene mutation