Faculty / Medical Geneticists

Ahmet Kablan

Medical Genetics Specialist

Department: Department of Medical Genetics, Ankara Etlik City Hospital

Departmental publications

Records from the department’s publication database linked to this researcher. The count above and this list come from the same index as the Publications page, so the figure matches that page’s author filter exactly. Author strings are reproduced from the source record and are not rewritten.

A Founder Allele in SGCG Combining Missense Variant and Multi-Exon Duplication in Turkish Patients With Sarcoglycanopathy

Sezer A; Büke A; Kazan HH; Kablan A; Alay MT; Talim B; Yüksel D; Saat H

Clinical Genetics · 2026

Departmental publications

A Founder Allele in SGCG Combining Missense Variant and Multi-Exon Duplication in Turkish Patients With Sarcoglycanopathy

A Retrospective Investigation of Microsatellite Instability (MSI) Testing in a Tertiary Centre Genetic Laboratory

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

ADNP-Related Neurodevelopmental Disorder: The First Turkish Case Series with Novel Variants and Reduced Intrafamilial Penetrance

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

Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases

Founder Variants of the Turkish

Hereditary Multiple Exostoses: Genetic, Radiologic, and Oncologic Insights from Twenty-one Patients

Homozygous DIAPH1 Deficiency Without Cortical Blindness Presenting with EBV-Associated Hodgkin Lymphoma

Phenotypic spectrum in patients with 16p11.2 deletion: a single tertiary centre experience in Türkiye

Refining the Hypochondroplasia Phenotypic Continuum: Genetic, Endocrine, and Radiological Findings in 23 Patients

Spectrum of CYP21A2 Variants: A Retrospective Single-center Study from a Tertiary Healthcare Center in Türkiye

West Syndrome Associated with a CLTC Gene Variant: A Case Report on Auditory Perception and Language Development

Xp;Yq Unbalanced Translocation in an Infertile Female: A Case Report

Clinical Consequences of Cancer-related RAS Signaling Pathway Beyond Malignancy

Expanding the Genetic and Phenotypic Spectrum of Mowat-Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion

Kabuki Syndrome and Charcot-Marie-Tooth Disease Co-Occurrence: Unique Case with Novel Variant

Kniest Dysplasia without Ocular and Auditory Abnormalities in a Boy of 12 Months

Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye

Prenatally Diagnosed De Novo Interstitial Duplication in 2p21p24.3 with Unique Manifestations: Case Report

Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature