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- Tıp
- Üniversite
- Necmettin Erbakan Üniversitesi
- Fakülte ve Bölüm
- Tıp Fakültesi
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Akademik Profiller
Yayınlar
- 1Uncovering the CLCN1 Y150* nonsense variant in myotonia congenita: genetic evidence from segregation analysisActa Neurologica Belgica2025
- 2Clinical Vigilance in Rare Disease Management: Atypical Features Lead to Discovery of Concurrent X-linked Adrenoleukodystrophy and Cystic FibrosisJournal of Child Neurology2025
- 3The diagnostic yield of molecular karyotyping: a retrospective single-center study.Croatian medical journal2025
- 4The role of spastin and paraplegin genes in primary progressive multiple sclerosisTurkish Journal of Neurology2024
- 5X Chromosome Pericentric Inversion: Report of a Case with 46,X,inv(X)(p11.2q26) and a Mini-Review of the LiteratureGazi Medical Journal2024
- 6Micro-RNA-371a-3p in Germ Cell Testicular Tumors on Diagnosis: A Prospective Case-Control Study in Turkish Population.Urology journal2024
- 7An Unusual Diagnostic Journey Through MLPA: From Spinal Muscular Atrophy to a Severe Case of Prader-Willi SyndromeJournal of Clinical Practice and Research2023
- 8A Turkish Family with Loeys-dietz Syndrome and a Report of a Homozygous Patient with SMAD3 Pathogenic VariationMedical Bulletin of Haseki2022
Yayın listesi ORCID kaydından alındı.