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

Assessing the Functional Significance of Novel and Rare Variants of the SLC26A4 Gene Found in Patients with Hearing Loss by Minigene Assay

利用微基因检测评估听力损失患者中发现的SLC26A4基因新型和罕见变异的功能意义

Danilchenko, Valeriia Yu; Panina, Ekaterina A; Zytzar, Marina V; Orishchenko, Konstantin E; Posukh, Olga L

Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains

位于不同Cx26结构域的GJB2基因(Cx26)致病变异的功能后果

Posukh, Olga L; Maslova, Ekaterina A; Danilchenko, Valeriia Yu; Zytsar, Marina V; Orishchenko, Konstantin E

Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia)

深入了解与听力损失相关的 SLC26A4 基因致病变异 c.919-2A>G 的自然史:其起源于俄罗斯西伯利亚南部的证据

Danilchenko, Valeriia Yu; Zytsar, Marina V; Maslova, Ekaterina A; Orishchenko, Konstantin E; Posukh, Olga L

Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss

选择与听力损失相关的SLC26A4基因中具有诊断意义的区域

Danilchenko, Valeriia Yu; Zytsar, Marina V; Maslova, Ekaterina A; Posukh, Olga L

Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia)

俄罗斯西伯利亚南部两个土著民族中SLC26A4相关听力损失发生率的差异

Danilchenko, Valeriia Yu; Zytsar, Marina V; Maslova, Ekaterina A; Bady-Khoo, Marita S; Barashkov, Nikolay A; Morozov, Igor V; Bondar, Alexander A; Posukh, Olga L

High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect

西伯利亚南部聋哑患者中三种常见GJB2突变c.516G>C、c.-23+1G>A和c.235delC的高发生率是由于创始人效应所致。

Zytsar, Marina V; Bady-Khoo, Marita S; Danilchenko, Valeriia Yu; Maslova, Ekaterina A; Barashkov, Nikolay A; Morozov, Igor V; Bondar, Alexander A; Posukh, Olga L

Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia

俄罗斯听力损失相关c.35delG (GJB2)基因携带率更新及西伯利亚常见c.35delG单倍型

Zytsar, Marina V; Barashkov, Nikolay A; Bady-Khoo, Marita S; Shubina-Olejnik, Olga A; Danilenko, Nina G; Bondar, Alexander A; Morozov, Igor V; Solovyev, Aisen V; Danilchenko, Valeriia Yu; Maximov, Vladimir N; Posukh, Olga L

Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia)

全外显子组测序揭示阿尔泰家族(西伯利亚南部)非综合征性听力损失与 RAI1、OTOF 和 SLC26A4 基因纯合突变相关

Сhurbanov, Alexander Y; Karafet, Tatiana M; Morozov, Igor V; Mikhalskaia, Valeriia Yu; Zytsar, Marina V; Bondar, Alexander A; Posukh, Olga L