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Klinische Padiatrie|February 2, 2026
Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 VariantAslı Genç, Neriman Şahiner, Ahmet Cevdet Ceylan, et al.
Brain & Development|September 9, 2019
Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panelElif Acar Arslan, İbrahim Öncel, Ahmet Cevdet Ceylan, et al.
Asian Pacific Journal of Cancer Prevention : APJCP|August 28, 2021
High Expression of Stem Cell-Related Genes in Polyps with Villous Features and High-Grade Dysplasia Support Malignant Phenotype and Colorectal CarcinogenesisIbrahim Sahin, Betül Gündoğdu, Ahmet Cevdet Ceylan, et al.
The Turkish Journal of Pediatrics|July 13, 2021
Sertoli-Leydig cell tumor, thyroid follicular carcinoma and rhabdomyosarcoma of the uterine cervix in a prepubertal girl with pathogenic germline variant in DICER1 geneİbrahim Karnak, Ahmet Cevdet Ceylan, Mithat Haliloğlu, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|February 3, 2024
Validation of SMA screening kits with SMN1 gene analysis in a Turkish cohortMurat Gülşen, Ahmet Cevdet Ceylan, Taha Bahsi, et al.
Cardiology in the Young|December 11, 2025
ECG artefact or life-threatening arrhythmia? A neonatal presentation of Long QT syndrome type 3 with a de novo SCN5A mutationEmine Gulsah Torun, Nevin Özdemiroğlu, İsmail Çağrı Açıkgöz, et al.
Molecular Syndromology|December 13, 2021
Intracranial Calcification Associated with 3-Methylcrotonyl-CoA Carboxylase DeficiencySüleyman Şahin, Miraç Yıldırım, Ömer Bektaş, et al.
Molecular Syndromology|April 13, 2026
Expandingthe Phenotypic Spectrum of PUS3 Deficiency: A p.Tyr71Cys Case Demonstrating a Stable, Nonprogressive Leukoencephalopathy PatternHande Aygün, İbrahim Şahin, Alper Taşkın, et al.
Noro Psikiyatri Arsivi|December 11, 2023
c.4168G>A(p.Ala 1390Thr) Variation in KMT2D Gene Detected in an Ultra-treatment-resistant Schizophrenia Patient: A Case Report and Literature ReviewAnıl Alp, Elçin Özçelik Eroğlu, M İrem Yıldız, et al.
Acta Neurologica Belgica|March 15, 2020
Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literatureAhmet Cevdet Ceylan, Elif Acar Arslan, Haktan Bağış Erdem, et al.
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