Browsing by Author "Akcan, Mehmet Berkay"
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Anemia and thrombocytopenia due to a novel BRPF1 variant in a family from canakkale with intellectual disability and dysmorphic facies: Case report and review of the literature
Köse, Canan Ceylan; Kaya, Derya; Akcan, Mehmet Berkay; Sılan, Fatma (John Wiley and Sons Inc, 2023)Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) (MIM#617333) is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability (ID), and dysmorphic ... -
Çanakkale örnekleminde tüm ekzom dizileme (Wes) ile elde edilen verilerden konjenital monosakkarit ve disakkarit metabolizma bozuklukları ile ilişkili genetik varyantların güncel verilerle değerlendirilmesi ve taşıyıcılık oranlarının belirlenmesi
Akcan, Mehmet Berkay (Çanakkale Onsekiz Mart Üniversitesi, 2023)GİRİŞ VE AMAÇ: Advers gıda reaksiyonları günlük hayatta önemli bir yer kaplar ancak yetersiz olarak tanınır ve yönetilir. Konjenital monosakkarit-disakkarit metabolizma bozuklukları, karbonhidrat malabsorbiyonun alt ... -
Evaluating of colchicine use patterns and attack frequency of familial Mediterranean fever patients in the COVID-19 pandemic
Akcan, Mehmet Berkay; Albuz, Burcu; Özdemir, Özturk; Sılan, Fatma (John Wiley and Sons Inc, 2023)Familial Mediterranean Fever (FMF) is an autosomal recessive and dominant inherited disease and is the most common autoinflamma-tory disease characterized by recurrent episodes of fever, arthritis, and polyserositis.1Colchicine ...
