Publications by authors named "Ahmet Kablan"

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Founder Variants of the Turkish.
Ahmet Kablan

Clin Genet· January 2026

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Prenatally Diagnosed De Novo Interstitial Duplication in 2p21p24.3 with Unique Manifestations: Case Report.
Ahmet Kablan, Abdullah Sezer, Abdüllatif Bakir, Abdülkerim Kolkiran, Hanife Saat

Mol Syndromol· November 2025

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Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.
Ahmet Kablan, Abdullah Sezer, Abdullatif Bakır, Elifcan Taşdelen, Firdevs Dinçsoy Bir

Clin Genet· September 2025

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A Founder Allele in SGCG Combining Missense Variant and Multi-Exon Duplication in Turkish Patients With Sarcoglycanopathy.
Abdullah Sezer, Afife Büke, Hasan Hüseyin Kazan, Ahmet Kablan, Mustafa Tarık Alay

Clin Genet· August 2025

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Kniest Dysplasia without Ocular and Auditory Abnormalities in a Boy of 12 Months.
Abdulkerim Kolkıran, Tuğba Daşar, Ahmet Kablan, Pelin Özlem Şimşek-Kiper

Mol Syndromol· May 2025

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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.
Ahmet Kablan, Esma Ertürkmen Aru, Süleyman Atar, Aydeniz Aydin Gumus, Ezgi Gökpınar İli

Am J Med Genet A· March 2025

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Kabuki Syndrome and Charcot-Marie-Tooth Disease Co-Occurrence: Unique Case with Novel Variant.
Ahmet Kablan, Esma Erturkmen Aru

Mol Syndromol· February 2025

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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.
Ahmet Kablan, Elifcan Tasdelen

Ital J Pediatr· June 2024

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Re-evaluation of Genetic Variants in Parkinson's Disease Using Targeted Panel and Next-Generation Sequencing.
Ahmet Kablan, Fatma Silan, Ozturk Ozdemir

Twin Res Hum Genet· April 2023

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