Alper Gezdirici

Istanbul, Turkey

Last Updated: 09/26/2026

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Found 103 publications

A case of Schöpf-Schulz-Passarge syndrome presented with widespread apocrine hidrocystomas showing variable clinical features.

A case of Schöpf-Schulz-Passarge syndrome presented with widespread apocrine hidrocystomas showing variable clinical features.

Journal: Acta dermatovenerologica Croatica : ADC

Published: June 29, 2026

Broadening the Okur-Chung syndrome phenotype: adult-onset metabolic features and a contiguous 20p13 deletion in a Turkish multicenter cohort.

Broadening the Okur-Chung syndrome phenotype: adult-onset metabolic features and a contiguous 20p13 deletion in a Turkish multicenter cohort.

Journal: Journal of human genetics

Published: May 24, 2026

A HECW2 Missense Variant with a Coexisting 15q25.2-q25.3 Deletion: A Dual Molecular Diagnosis Case Report.

A HECW2 Missense Variant with a Coexisting 15q25.2-q25.3 Deletion: A Dual Molecular Diagnosis Case Report.

Journal: Molecular syndromology

Published: March 23, 2026

Phenotype-Driven Next-Generation Sequencing and Structure-Based In Silico Analysis Reveal Disease-Specific Diagnostic Yield and Genotype-Phenotype Correlations in Inherited Kidney Diseases.

Phenotype-Driven Next-Generation Sequencing and Structure-Based In Silico Analysis Reveal Disease-Specific Diagnostic Yield and Genotype-Phenotype Correlations in Inherited Kidney Diseases.

Journal: Life (Basel, Switzerland)

Published: February 13, 2026

Clinical and Genetic Characteristics of Pheochromocytoma and Paraganglioma: A Single-Center Experience Including a Rare VHL Variant.

Clinical and Genetic Characteristics of Pheochromocytoma and Paraganglioma: A Single-Center Experience Including a Rare VHL Variant.

Journal: Journal of clinical medicine

Published: December 16, 2025

Biallelic Truncating DNAH14 Variant in Siblings with Neurodevelopmental Disorder and Predominant Ataxia: Clinical Report and Literature Review.

Biallelic Truncating DNAH14 Variant in Siblings with Neurodevelopmental Disorder and Predominant Ataxia: Clinical Report and Literature Review.

Journal: International journal of molecular sciences

Published: December 09, 2025

The role of ATP9A (c.1091G > C; p.(Arg364Thr)) variant in cognitive impairment: diagnostic insight from whole exome sequencing.

The role of ATP9A (c.1091G > C; p.(Arg364Thr)) variant in cognitive impairment: diagnostic insight from whole exome sequencing.

Journal: Molecular biology reports

Published: December 02, 2025

A Novel Phosphoglucomutase-3 Gene Variant Causing Milder Phenotype in Two Families.

A Novel Phosphoglucomutase-3 Gene Variant Causing Milder Phenotype in Two Families.

Journal: Journal of clinical immunology

Published: October 07, 2025

Long-term follow-up of growth and puberty in 3-M syndrome: effects of growth hormone therapy and response variability.

Long-term follow-up of growth and puberty in 3-M syndrome: effects of growth hormone therapy and response variability.

Journal: Endocrine

Published: May 04, 2025

Down Syndrome: From Pregnancy through Childhood in Türkiye.

Down Syndrome: From Pregnancy through Childhood in Türkiye.

Journal: Molecular syndromology

Published: May 02, 2025

Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases.

Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases.

Journal: Clinical genetics

Published: April 23, 2025

Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants.

Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants.

Journal: Molecular syndromology

Published: March 31, 2025

Showing 1-12 of 103

Last Updated: 09/26/2026