Yazar "Ozbek, Ugur" için listeleme
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Chromosomal breakage and sister chromatid exchange analysis in breast cancer patients with heterozygous BLM gene variants
Yararbas, Kanay; Sayar, Ceyhan; Tavukcu, Cemre; Korkmaz, Taner; Cankaya, Dilara Cakmak; Mutlu, Elif Karabacak; Ozbek, Ugur (Walter De Gruyter Gmbh, 2024)Objectives BLM, a member of the RecQ helicase family, plays an important role in DNA repair, and its biallelic mutations cause autosomal recessive Bloom syndrome, a disease characterized by elevated levels of sister chromatid ... -
Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity
Mercan, Sevcan; Akcakaya, Nihan Hande; Salman, Baris; Yapici, Zuhal; Ozbek, Ugur; Ugur Iseri, Sibel Aylin (Springer, 2023)Background Syndromic intellectual disability (ID) with accompanying primary microcephaly is a group of rare neurodevelopmental disorders exhibiting extreme genetic and clinical heterogeneity. This layered heterogeneity can ...
