Bölüm "İstanbul Medipol Üniversitesi, Rektörlük, Genetik Hastalıklar Değerlendirme Merkezi (MEDİGEN)" Makale Koleksiyonu için listeleme
Toplam kayıt 3, listelenen: 1-3
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Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia
(Public Library of Science, 2022)Background Periventricular nodular heterotopia (PNH) is a cell migration disorder associated with mutations in Filamin-A (FLNA) gene on chromosome X. Majority of the individuals with PNHassociated FLNA mutations are female ... -
First case with RANBP2 biallelic mutation and severe acute necrotizing encephalopathy phenotype
(Elsevier B.V., 2022)Familial acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can occur after common viral infections at different stages of life. The clinical findings of 2 siblings diagnosed with ANE were ... -
Preoperative screening for COVID-19: Results from a clinical diagnostic laboratory
(Istanbul University, 2022)Objective: The study aimed to determine what proportion of Turkiye’s preoperative patient population has tested positive for COVID-19 and to ascertain whether the increasing or decreasing trend in the numbers of positive ...