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Toplam kayıt 2, listelenen: 1-2
Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene
(Taylor & Francis, 2021)
Purpose: The current study aims to raise awareness of Boucher - Neuhauser syndrome (BNHS) that occurs as a rare phenotype due to biallelic pathogenic variants in the PNPLA6 gene.
Methods: Detailed family histories and ...
The Impact of COVID-19 on Conjunctival Flora
(Taylor & Francis, 2021)
Purpose: This study aims to evaluate the effect of coronavirus disease 2019 (COVID-19) on conjunctival flora in patients hospitalized with COVID-19. Methods: This prospective, controlled study was conducted between June ...