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Familial Cancer|June 12, 2026
Homozygous TP53 alterations: a case of a biallelic splice variant and a brief review of the literatureSaid Furkan Yildirim, Ahmet Cevdet CeylanAndrologia|June 7, 2022
Investigation of sub-chromosomal changes in males with idiopathic azoospermia by chromosomal microarray analysisŞenol Çitli, Ahmet Cevdet Ceylan, Fikret ErdemirJournal of the College of Physicians and Surgeons--Pakistan : JCPSP|October 10, 2022
The Case with Short Stature and Intellectual Disability Caused by a Novel 2q12 DuplicationPinar Kocaay, Ahmet Cevdet Ceylan, Derya TepeMolecular Syndromology|November 13, 2025
Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an ANKRD11 Gene VariantDuygu Çetinkaya, Mustafa Altan, Ahmet Cevdet Ceylan, et al.Molecular Syndromology|December 7, 2023
A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 GeneTuna Eren Esen, Özlem Ünal Uzun, Ahmet Cevdet CeylanNeurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|April 7, 2020
SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODE-SEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers and the "2+0" genotypeAhmet Cevdet Ceylan, Haktan Bağış Erdem, İbrahim Şahin, et al.Multiple Sclerosis and Related Disorders|July 29, 2019
A special association between Charcot-Marie-Tooth type 1A disease and relapsing remitting multiple sclerosisYahya Doğan, Şule Gül, Ahmet Cevdet Ceylan, et al.Metabolic Brain Disease|April 9, 2018
First cardiac manifestation of hypotonia-cystinuria syndromeMustafa Kılıç, Ahmet Cevdet Ceylan, Utku Arman Örün, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|October 16, 2025
Phosphoglucomutase 1 deficiency misdiagnosed as Laron syndromeSeyit Ahmet Uçaktürk, Emre Özer, Ahmet Cevdet Ceylan, et al.Molecular Syndromology|April 14, 2022
KMT2B-Related Dystonia: Challenges in Diagnosis and TreatmentAyşe Aksoy, Özlem Yayıcı Köken, Ahmet Cevdet Ceylan, et al.Pageof 6