Browsing by Author "Gogus, Basak"

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Genetic aspects of ataxias in a cohort of Turkish patients

Gogus, Basak; Elmas, Muhsin; Turk Boru, Ulku (Springer-Verlag Italia Srl, 2024)

Introduction Ataxia is one of the clinical findings of the movement disorder disease group. Although there are many underlying etiological reasons, genetic etiology has an increasing significance thanks to the recently ...
Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p.Arg1163_ Ala1168del) INSR gene mutation in an adolescent girl and her mother

Koca, Serkan Bilge; Kulali, Melike Ataseven; Gogus, Basak; Demirbilek, Hueseyin (Sbem-Soc Brasil Endocrinologia & Metabologia, 2024)

Mutations in the insulin receptor (INSR) gene may present with variable clinical phenotypes. We report herein a novel heterozygous INSR mutation in an adolescent girl with type A insulin resistance syndrome and her mother.The ...