Fahrettin Duymus

Usak, Turkey

Last Updated: 09/26/2026

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Found 14 publications

Same mutation, different disease: intrafamilial clinical and radiological diversity in HPRT1-related gout-the first family series from Türkiye.

Same mutation, different disease: intrafamilial clinical and radiological diversity in HPRT1-related gout-the first family series from Türkiye.

Journal: Clinical rheumatology
Published: May 17, 2026

Novel Variants in PTPN11 , NF1 , RASA2 , and MAP2K1 : Expanding the Molecular Spectrum of RASopathies in a Turkish Cohort.

Novel Variants in PTPN11 , NF1 , RASA2 , and MAP2K1 : Expanding the Molecular Spectrum of RASopathies in a Turkish Cohort.

Journal: Clinical genetics
Published: November 16, 2025

The Association of FMR1 Gene Low-Normal and High-Normal Alleles with Ovarian Dysfunctions: A Retrospective Analysis from the Turkish Population.

The Association of FMR1 Gene Low-Normal and High-Normal Alleles with Ovarian Dysfunctions: A Retrospective Analysis from the Turkish Population.

Journal: Molecular syndromology
Published: November 10, 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

Familial Hyperekplexia Caused by a Novel Homozygous SLC6A5 Variant: A Case Report.

Familial Hyperekplexia Caused by a Novel Homozygous SLC6A5 Variant: A Case Report.

Journal: Molecular syndromology
Published: May 26, 2025

High Diagnostic Yield of Next-Generation Sequencing in Charcot-Marie-Tooth Patients and a Novel Variant in the NDRG1 Gene.

High Diagnostic Yield of Next-Generation Sequencing in Charcot-Marie-Tooth Patients and a Novel Variant in the NDRG1 Gene.

Journal: Molecular syndromology
Published: January 03, 2025

Utility of Optical Genome Mapping in Repeat Disorders.

Utility of Optical Genome Mapping in Repeat Disorders.

Journal: Clinical genetics
Published: July 13, 2024

Assessment of Pathogenic Variants in the PAH Gene and Genotype-Phenotype Correlation in Phenylketonuria Patients from Turkey.

Assessment of Pathogenic Variants in the PAH Gene and Genotype-Phenotype Correlation in Phenylketonuria Patients from Turkey.

Journal: Biochemical genetics
Published: May 21, 2024

Influence of the IDOL Gene Variants on Low-Density Lipoprotein Cholesterol Levels in Turkish Patients with Familial Hypercholesterolemia.

Influence of the IDOL Gene Variants on Low-Density Lipoprotein Cholesterol Levels in Turkish Patients with Familial Hypercholesterolemia.

Journal: Molecular syndromology
Published: April 25, 2024

Are decreased cocaine- and amphetamine regulated transcript and Agouti- related peptide levels associated Eating behavior in medication-free children with attention deficit and hyperactivity disorder?

Are decreased cocaine- and amphetamine regulated transcript and Agouti- related peptide levels associated Eating behavior in medication-free children with attention deficit and hyperactivity disorder?

Journal: Progress in neuro-psychopharmacology & biological psychiatry
Published: September 13, 2023

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.

Journal: Brain communications
Published: January 09, 2023

A novel double hemizygous BTK mutation in a boy presenting with Pseudomonas skin abscesses.

A novel double hemizygous BTK mutation in a boy presenting with Pseudomonas skin abscesses.

Journal: Clinical and experimental dermatology
Published: November 28, 2021
Showing 1-12 of 14

Last Updated: 09/26/2026