日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Example of Intrafamilial Clinical Polymorphism in a Family with Osteogenesis Imperfecta

成骨不全症家族内临床多态性的例子

Galkina, Varvara A; Vasilyeva, Tatyana A; Tebieva, Inna S; Getoeva, Zolina K; Marakhonov, Andrey V; Kadyshev, Vitaly V; Kutsev, Sergey I; Zinchenko, Rena A

Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia-Alania

北奥塞梯-阿兰共和国非综合征性感觉神经性听力损失的遗传病因

Petrova, Nika; Tebieva, Inna; Kadyshev, Vitaly; Getoeva, Zalina; Balinova, Natalia; Marakhonov, Andrey; Vasilyeva, Tatyana; Ginter, Evgeny; Kutsev, Sergey; Zinchenko, Rena

The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene

本文报告了来自北奥塞梯-阿兰共和国的两例互不相关的临床病例,这两例病例均携带COL6A2基因中此前未描述的相同变异。

Ionova, Sofya A; Murtazina, Aysylu F; Tebieva, Inna S; Getoeva, Zalina K; Dadali, Elena L; Chausova, Polina A; Shchagina, Olga A; Marakhonov, Andrey V; Kutsev, Sergey I; Zinchenko, Rena A