Murat Erdogan

Kayseri, Turkey

Last Updated: 09/26/2026

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Found 25 publications

Genotype-Phenotype Correlations in Phenylketonuria and Hyperphenylalaninemia: A Single-Center Study.

Genotype-Phenotype Correlations in Phenylketonuria and Hyperphenylalaninemia: A Single-Center Study.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: October 21, 2025

Assessment of biotinidase activity changes over time in biotinidase deficient patients.

Assessment of biotinidase activity changes over time in biotinidase deficient patients.

Journal: Frontiers in pediatrics

Published: August 27, 2025

Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental Disorders.

Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental Disorders.

Journal: Human mutation

Published: June 04, 2025

A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis.

A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis.

Journal: Neurogenetics

Published: March 07, 2025

Novel ferritin L-chain gene variant in a case of hereditary hyperferritinemia-cataract syndrome without family history.

Novel ferritin L-chain gene variant in a case of hereditary hyperferritinemia-cataract syndrome without family history.

Journal: Ophthalmic genetics

Published: February 23, 2025

A Rare Cause of Primary Microcephaly: 4 New Variants in CDK5RAP2 Gene and Review of the Literature.

A Rare Cause of Primary Microcephaly: 4 New Variants in CDK5RAP2 Gene and Review of the Literature.

Journal: American journal of medical genetics. Part A

Published: August 27, 2024

A Novel Variant in AKAP9 Gene, a Controversial Gene, in Long QT Syndrome.

A Novel Variant in AKAP9 Gene, a Controversial Gene, in Long QT Syndrome.

Journal: Molecular syndromology

Published: August 05, 2023

Congenital Adrenal Hyperplasia with Combined 21-hydroxylase deficiency and 17α-hydroxylase/17,20-lyase deficiency: An undervirilized male.

Congenital Adrenal Hyperplasia with Combined 21-hydroxylase deficiency and 17α-hydroxylase/17,20-lyase deficiency: An undervirilized male.

Journal: European journal of medical genetics

Published: January 30, 2023

Congenital Myasthenic Syndromes in Turkey: Clinical and Molecular Characterization of 16 Cases With Three Novel Mutations.

Congenital Myasthenic Syndromes in Turkey: Clinical and Molecular Characterization of 16 Cases With Three Novel Mutations.

Journal: Pediatric neurology

Published: June 15, 2022

The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.

The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.

Journal: Balkan medical journal

Published: December 03, 2021

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.

Journal: Functional & integrative genomics

Published: July 09, 2021

Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjögren syndrome: Case report and literature review.

Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjögren syndrome: Case report and literature review.

Journal: European journal of ophthalmology

Published: June 02, 2021

Showing 1-12 of 25

Last Updated: 09/26/2026