Academician profile · DOÇENT
AHMET CEVDET CEYLAN
ANKARA YILDIRIM BEYAZIT ÜNİVERSİTESİ
- Ana Dal Sağlık Bilimleri Temel Alanı
- Yan Dal Tıbbi Genetik
- TIP FAKÜLTESİ
- DAHİLİ TIP BİLİMLERİ BÖLÜMÜ
Scopus (SJR)
Q1
16
Q2
20
Q3
20
Q4
12
WoS (JCR)
Q1
9
Q2
11
Q3
19
Q4
28
TR Index
13
articles
Articles
- 2026 Effects of newborn screening and nusinersen on survival and functional outcomes in spinal muscular atrophy with two SMN2 copies: A nationwide multicentre real-world study from Turkey
- 2026 Childhood Interstitial Lung Disease in Metabolic Disorders: Prevalence, Genotypic and Clinical Characteristics, and Management Approaches: An Analysis of the Child-Turkey Registry
- 2026 Understanding Pulmonary Fibrosis in Pediatric Interstitial Lung Disease: A Comprehensive Analysis
- 2026 A Case Report: Diagnostic Route of a Patient with PLA2G6-Infantile Neuroaxonal Dystrophy and Familial Hyperlipidemia
- 2026 Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant
- 2026 Homozygous TP53 alterations: a case of a biallelic splice variant and a brief review of the literature
- 2026 Molecular Analysis Based on Fine-Needle Aspiration Washout Samples in Thyroid Nodules
- 2026 Quality of life in Turkish children with interstitial lung disease: Insights from the National chILD Registry
- 2026 MLPA-Detected CFTR Exon Deletions in Children With Inconclusive CFTR Sequencing: A Single-Center Experience From Türkiye
- 2026 Variable Response to Elexacaftor/Tezacaftor/Ivacaftor in [L467F;F508del] Homozygous Patients: A Case Series
- 2025 Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an ANKRD11 Gene Variant
- 2025 What is the right choice? Is the answer sodium channel blockers?
- 2025 Phosphoglucomutase 1 deficiency misdiagnosed as Laron syndrome
- 2025 Psychiatric Presentation of Hereditary Coproporphyria with Coproporphyrinogen Oxidase Gene Mutation c.734 C>T: A Case Report
- 2025 ECG artefact or life-threatening arrhythmia? A neonatal presentation of Long QT syndrome type 3 with a de novo SCN5A mutation
- 2025 Clinical and molecular characterization of 148 pediatric neurofibromatosis type 1 patients: a single-center study identifying 14 novel variants
- 2025 Immunodeficiency-Associated Childhood Interstitial Lung Diseases: Data from the Türkiye chILD Registry
- 2025 Genetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patients
- 2024 Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.
- 2024 Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration