Faculty / Medical Geneticists

Ahmet Kablan

Medical Genetics Specialist

Department: Department of Medical Genetics, Ankara Etlik City Hospital

Publications listing this author

Records from the department’s publication database whose author list includes this name. 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

DOI PubMed

Rare Disease Genetics Neuromuscular & Skeletal Genetics

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

Kolkıran A; Sarıkaya Özdemir B; Sezer A; Kulalı MA; Daşar T; Savaş Erdeve Ş; Alay MT; Uçan B; Kablan A; Taşdelen E; Dinçsoy Bir F; et al.

American Journal of Medical Genetics Part A · 2026

DOI PubMed

Rare Disease Genetics Neuromuscular & Skeletal Genetics

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

Kablan A; Sezer A; Bakır A; Güneş AK; Taşdelen E; Dinçsoy Bir F; Erdem HB; Saat H; Erdal H; Alay MT; Coşkun Y

The Eurasian Journal of Medicine · 2026

DOI PubMed

Rare Disease Genetics Metabolic, Mitochondrial & Cardiovascular Genetics

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

Kolkıran A; Kulalı MA; Daşar T; Kablan A; Taşdelen E; Atay G; Sarıkaya Özdemir B; Savaş Erdeve Ş

European Journal of Pediatrics · 2026

DOI PubMed

Rare Disease Genetics Syndromic Disorders & Genotype–Phenotype Discovery

Founder Variants of the Turkish

Kablan A

Clinical Genetics · 2026

DOI PubMed

Cross-cutting Variant Interpretation & Population Genomics

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

Özlem A; Şirin S; İpek Demir K; Kolkıran A; Kablan A; Ulusoy Severcan E; Akelma Z

Pediatric Allergy, Immunology, and Pulmonology · 2026

DOI PubMed

Rare Disease Genetics Syndromic Disorders & Genotype–Phenotype Discovery

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

Kablan A; Bakır A; Taşdelen E; Dinçsoy Bir F; Kolkıran A; Kulalı MA; Atasoy E; Menderes D; Efe A; Kılıç M; Erdal İ

The Turkish Journal of Pediatrics · 2026

DOI PubMed

Rare Disease Genetics Cytogenomics & Structural Variation

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

Kablan A; Aru EE; Atar S; Gumus AA; Ili EG; Kayhan G; Tekin K; Silan F

American Journal of Medical Genetics Part A · 2025

DOI PubMed

Rare Disease Genetics Syndromic Disorders & Genotype–Phenotype Discovery

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

Kablan A; Aru EE

Molecular Syndromology · 2025

DOI PubMed

Rare Disease Genetics Syndromic Disorders & Genotype–Phenotype Discovery

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

Kolkiran A; Dasar T; Kablan A; Simsek-Kiper PO

Molecular Syndromology · 2025

DOI PubMed

Rare Disease Genetics Neuromuscular & Skeletal Genetics

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

Kablan A; Sezer A; Bakır A; Taşdelen E; Dinçsoy Bir F; Erdem HB; Saat H; Alay MT; et al.

Clinical Genetics · 2025

DOI PubMed

Rare Disease Genetics Cytogenomics & Structural Variation

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

Kablan A; Sezer A; Bakir A; Kolkiran A; Saat H

Molecular Syndromology · 2025

DOI PubMed

Rare Disease Genetics Cytogenomics & Structural Variation