Ahmet Cevdet Ceylan

Çankaya University — Turkey

Biochemistry, Genetics and Molecular Biology · Life Sciences

9h-index343citations74works0.72yr avg
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Research Topics

Metabolism and Genetic Disorders(10), Genomics and Rare Diseases(9), Genetics and Neurodevelopmental Disorders(9), Congenital heart defects research(7), Mitochondrial Function and Pathology(6)

Publications73 total

ECG artefact or life-threatening arrhythmia? A neonatal presentation of Long QT syndrome type 3 with a de novo SCN5A mutation
Cardiology in the Young·2025
CAPOS and Beyond: ATP1A3 Variants in Pediatric Movement Disorders – Case Reports
Molecular Syndromology·2025Open Access
Clinical and molecular characterization of 148 pediatric neurofibromatosis type 1 patients: a single-center study identifying 14 novel variants
European Journal of Pediatrics·2025
Phosphoglucomutase 1 deficiency misdiagnosed as Laron syndrome
Journal of Pediatric Endocrinology and Metabolism·2025
Interstitial lung disease in children: ultra-rare genetic variants from national registry of Türkiye
2025
Childhood interstitial lung disease in metabolic disorders: prevalence, genotypic and clinical characteristics, and management approaches – an analysis of the chILD-Turkey registry
2025
Quality of Life in Turkish Children with Interstitial Lung Disease: Insights from the National ChILD Registry
2025
A clue for subclinical CNO in adolescents with acne conglobata and hidradenitis suppurativa: Persistan acute phase rectans elevation
Seminars in Arthritis and Rheumatism·2025
Genetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patients
Neuromuscular Disorders·2025· 2 cited
Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an ANKRD11 Gene Variant
Molecular Syndromology·2025Open Access
Psychiatric Presentation of Hereditary Coproporphyria with Coproporphyrinogen Oxidase Gene Mutation c.734 C>T: A Case Report
Nöro Psikiyatri Arşivi·2025Open Access
489P PIEZO2-associated distal arthrogryposis: phenotypic spectrum and genotype-phenotype correlations in a multicenter case series
Neuromuscular Disorders·2024
Immunodeficiencies in childhood interstitial lung diseases: First data from the Turkish National chILD registry
2024
Evaluation of postinfectious bronchiolitis obliterans patients in the Childhood Interstitial Lung Diseases Registry of Türkiye
2024
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study
The Cerebellum·2024· 6 citedOpen Access
Genetic Insights into Prepubertal Gynecomastia: A Comprehensive Analysis of a Rare 45,X[2]/ 46,X, + mar[28] Karyotype 
Research Square (Research Square)·2024· 1 citedOpen Access
Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration
Journal of Pediatric Endocrinology and Metabolism·2024
Heart Diseases in Patients with Organic Acidemia
Turkish Journal of Pediatric Disease·2024Open Access
Validation of SMA screening kits with SMN1 gene analysis in a Turkish cohort
Clinica Chimica Acta·2024· 3 cited
A new double series space derived by factorable matrix and four-dimensional matrix transformations
AIMS Mathematics·2024· 1 citedOpen Access
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Frequent Co-authors

Haluk Topaloğlu(9), Çiğdem Seher Kasapkara(9), Haktan Bağış Erdem(8), Özlem Yayıcı Köken(6), Büşranur Çavdarlı(6), İbrahim Şahin(5), Cavidan Nur Semerci Gündüz(4), Gülay Güleç Ceylan(4), Uluç Yiş(4), Didem Ardıçlı(4), Oya Kıreker Köylü(4), Vehap Topçu(3), Elif Acar Arslan(3), Saide Betül Arslan Satılmış(3), Burcu Civelek Ürey(3), Özlem Ünal Uzun(3), Özlem Sezer(2), Muhsin Elmas(2), İpek Polat(2), Semra Hız Kurul(2)