Browsing PubMed İndeksli Yayınlar Koleksiyonu by Department "İstinye Üniversitesi, Mühendislik ve Doğa Bilimleri Fakültesi, Biyoenformatik ve Genetik Bölümü"
Now showing items 1-4 of 4
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Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia
(PMC, 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 ... -
Diagnosis of primary immunodeficiency diseases in pediatric patients hospitalized for recurrent, severe, or unusual infections
(Codon Publications, 2022)Background: Primary immunodeficiency diseases (PID) usually presents itself with recurrent, severe, and unusual infections, along with autoimmunity and various other malignancies. But, the diversity of PID often makes the ... -
Identifying and elucidating the roles of Y198N and Y204F mutations in the PAH enzyme through molecular dynamic simulations
(Taylor And Francis, 2021)ABSTRACT Phenylketonuria is an autosomal recessive disorder caused by mutations in the phenylalanine hydroxylase gene. In phenylketonuria causes various symptoms including severe mental retardation. PAH gene of a classical ... -
Somatic hypermutation defects in two adult hyper immunoglobulin M patients
(Springer, 2022)Hyper immunoglobulin M (HIGM) syndrome is a rare disorder of the immune system with impaired antibody functions. The clinical picture of the patients varies according to the underlying genetic variation. In this study, ...
