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Clinical Genetics|October 11, 2025
Founder Variants of the TurkishAhmet Kablan
Italian Journal of Pediatrics|June 5, 2024
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 literatureAhmet Kablan, Elifcan Tasdelen
Molecular Syndromology|February 6, 2025
Kabuki Syndrome and Charcot-Marie-Tooth Disease Co-Occurrence: Unique Case with Novel VariantAhmet Kablan, Esma Erturkmen Aru
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies|May 4, 2023
Re-evaluation of Genetic Variants in Parkinson's Disease Using Targeted Panel and Next-Generation SequencingAhmet Kablan, Fatma Silan, Ozturk Ozdemir
Molecular Syndromology|December 19, 2025
Prenatally Diagnosed De Novo Interstitial Duplication in 2p21p24.3 with Unique Manifestations: Case ReportAhmet Kablan, Abdullah Sezer, Abdüllatif Bakir, et al.
Pediatric Allergy, Immunology, and Pulmonology|July 10, 2026
Homozygous DIAPH1 Deficiency Without Cortical Blindness Presenting with EBV-Associated Hodgkin LymphomaAli Özlem, Seda Şirin, Kezban İpek Demir, et al.
Clinical Genetics|August 10, 2025
A Founder Allele in SGCG Combining Missense Variant and Multi-Exon Duplication in Turkish Patients With SarcoglycanopathyAbdullah Sezer, Afife Büke, Hasan Hüseyin Kazan, et al.
American Journal of Medical Genetics. Part A|November 11, 2024
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 DeletionAhmet Kablan, Esma Ertürkmen Aru, Süleyman Atar, et al.
European Journal of Pediatrics|March 8, 2026
Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight casesAbdulkerim Kolkiran, Melike Ataseven Kulalı, Tuğba Daşar, et al.
Clinical Genetics|April 7, 2025
Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From TürkiyeAhmet Kablan, Abdullah Sezer, Abdullatif Bakır, et al.
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