Yazar "Ayaz, Akif" için listeleme
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DEVOUR: Deleterious Variants on Uncovered Regions in Whole-Exome Sequencing
Türk, Erdem; Ayaz, Akif; Yüksek, Ayhan; Süzek, Barış Ethem (PMC, 2023)The discovery of low-coverage (i.e. uncovered) regions containing clinically significant variants, especially when they are related to the patient's clinical phenotype, is critical for whole-exome sequencing (WES) based ... -
First case with RANBP2 biallelic mutation and severe acute necrotizing encephalopathy phenotype
Ayaz, Akif; Doğru, Zeynep; Kılıç, Betül; Süzek, Barış Ethem (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 ...
