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Molecular Syndromology|April 8, 2024
Detecting a Novel NOTCH3 Variant in Patients with Suspected CADASIL: A Single Center StudyZeynep Selcan Şanli, Özlem AnlaşArchives of Rheumatology|September 8, 2023
Utility of a targeted next-generation sequencing-based genetic screening panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndromeRabia Miray Kışla Ekinci, Özlem Anlaş, Özge ÖzalpJournal of Medical Case Reports|November 20, 2024
A novel nonsense RPS26 mutation in a patient with Diamond-Blackfan anemia: a case reportŞule Çalışkan Kamış, Metin Çil, Begül Yağcı, et al.Journal of Clinical Research in Pediatric Endocrinology|August 18, 2025
A Case of Carney Complex with Pontine GliomaGülümay Vural Topaktaş, Emrullah Arslan, Tayfun Çinleti, et al.Molecular Syndromology|June 16, 2023
Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGHÖzlem Anlaş, Akgün Ölmez, Birsen Karaman, et al.Familial Cancer|June 8, 2026
Characterization of the molecular and clinical features of Multilocus Inherited Neoplasia Allelic Syndrome (MINAS) cases in the Turkish populationMehmet Berkay Akcan, Ali Duru, Kadri Murat Erdoğan, et al.Pageof 1