Abdullah Sezer

Etlik, Turkey

Last Updated: 09/26/2026

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Found 55 publications

A Newly Identified YIF1B Frameshift Variant Causing Kaya-Barakat-Masson Syndrome.

A Newly Identified YIF1B Frameshift Variant Causing Kaya-Barakat-Masson Syndrome.

Journal: Journal of child neurology

Published: August 13, 2026

Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcification.

Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcification.

Journal: Journal of human genetics

Published: June 10, 2026

Distribution of HFE Gene Variants in Patients Undergoing Genetic Testing in Türkiye: A Retrospective Analysis of 643 Cases.

Distribution of HFE Gene Variants in Patients Undergoing Genetic Testing in Türkiye: A Retrospective Analysis of 643 Cases.

Journal: The Eurasian journal of medicine

Published: May 06, 2026

ACAN-Related Short Stature and Skeletal Dysplasia: Expanding the Phenotypic and Genotypic Spectrum in a 47 Patient Cohort From Turkey.

ACAN-Related Short Stature and Skeletal Dysplasia: Expanding the Phenotypic and Genotypic Spectrum in a 47 Patient Cohort From Turkey.

Journal: American journal of medical genetics. Part A

Published: March 13, 2026

Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED).

Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED).

Journal: American journal of medical genetics. Part A

Published: February 27, 2026

A comparative analysis of all reported patients with MTHFS-related neurodevelopmental disorder.

A comparative analysis of all reported patients with MTHFS-related neurodevelopmental disorder.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: January 31, 2026

Monoallelic NTHL1 p.(Gln90*) and cancer risk: evidence from a large Turkish cohort.

Monoallelic NTHL1 p.(Gln90*) and cancer risk: evidence from a large Turkish cohort.

Journal: Familial cancer

Published: January 26, 2026

Atypical Biallelic Inheritance in "Dominant" Genes: Evidence From a Large-Scale Consanguineus Exome Cohort.

Atypical Biallelic Inheritance in "Dominant" Genes: Evidence From a Large-Scale Consanguineus Exome Cohort.

Journal: American journal of medical genetics. Part A

Published: December 26, 2025

A novel NT5C2 Variant in a Family with Spastic Paraplegia and Intellectual Disability.

A novel NT5C2 Variant in a Family with Spastic Paraplegia and Intellectual Disability.

Journal: Klinische Padiatrie

Published: December 09, 2025

Genotypic and Phenotypic Characteristics of Turkish Patients with Hereditary Fructose Intolerance.

Genotypic and Phenotypic Characteristics of Turkish Patients with Hereditary Fructose Intolerance.

Journal: Molecular syndromology

Published: November 02, 2025

ATP6V0A2-Related Cutis Laxa: Identification of a Recurrent Exon 16 Deletion With Founder Effect in Southeastern Türkiye and a Novel Frameshift Variant.

ATP6V0A2-Related Cutis Laxa: Identification of a Recurrent Exon 16 Deletion With Founder Effect in Southeastern Türkiye and a Novel Frameshift Variant.

Journal: American journal of medical genetics. Part A

Published: October 22, 2025

Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility.

Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility.

Journal: American journal of human genetics

Published: September 16, 2025

Showing 1-12 of 55

Last Updated: 09/26/2026