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Toplam kayıt 4, listelenen: 1-4
Effects of chromosomal translocations on sperm count in azoospermic and oligospermic cases
(Dokuz Eylül University Institute of Health Sciences, 2022)
Purpose: A number of mechanisms have been proposed for the effect of chromosomal translocations on spermatogenesis and sperm maturation. However, there are still numerous ambiguous issues regarding these two processes. The ...
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 ...
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 ...
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 ...