日期 影响因子
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

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms262110732
Danilchenko, Valeriia Yu; Panina, Ekaterina A; Zytzar, Marina V; Orishchenko, Konstantin E; Posukh, Olga L
发表日期：2025
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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

期刊:Biomolecules
影响因子:4.8
doi:10.3390/biom13101521
Posukh, Olga L; Maslova, Ekaterina A; Danilchenko, Valeriia Yu; Zytsar, Marina V; Orishchenko, Konstantin E
发表日期：2023
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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

期刊:Genes
影响因子:2.8
doi:10.3390/genes14040928
Danilchenko, Valeriia Yu; Zytsar, Marina V; Maslova, Ekaterina A; Orishchenko, Konstantin E; Posukh, Olga L
发表日期：2023
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The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia)

贝加尔湖地区（俄罗斯）听力障碍患者的GJB2（Cx26）基因变异

期刊:Genes
影响因子:2.8
doi:10.3390/genes14051001
Pshennikova, Vera G; Teryutin, Fedor M; Cherdonova, Alexandra M; Borisova, Tuyara V; Solovyev, Aisen V; Romanov, Georgii P; Morozov, Igor V; Bondar, Alexander A; Posukh, Olga L; Fedorova, Sardana A; Barashkov, Nikolay A
发表日期：2023
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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

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms232113453
Danilchenko, Valeriia Yu; Zytsar, Marina V; Maslova, Ekaterina A; Posukh, Olga L
发表日期：2022
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Agent-Based Modeling of Autosomal Recessive Deafness 1A (DFNB1A) Prevalence with Regard to Intensity of Selection Pressure in Isolated Human Population

基于代理的常染色体隐性遗传性耳聋1A（DFNB1A）患病率建模及其与孤立人群选择压力强度的关系

期刊:Biology-Basel
影响因子:3.5
doi:10.3390/biology11020257
Romanov, Georgii P; Smirnova, Anna A; Zamyatin, Vladimir I; Mukhin, Aleksey M; Kazantsev, Fedor V; Pshennikova, Vera G; Teryutin, Fedor M; Solovyev, Aisen V; Fedorova, Sardana A; Posukh, Olga L; Lashin, Sergey A; Barashkov, Nikolay A
Human
发表日期：2022
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Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene

东西伯利亚雅库特人群隔离区中的常染色体隐性白内障（CTRCT18）：FYCO1基因中的一种新型创始变异

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-021-00833-w
Barashkov, Nikolay A; Konovalov, Fedor A; Borisova, Tuyara V; Teryutin, Fedor M; Solovyev, Aisen V; Pshennikova, Vera G; Sapojnikova, Nadejda V; Vychuzhina, Lyubov S; Romanov, Georgii P; Gotovtsev, Nyurgun N; Morozov, Igor V; Bondar, Alexander A; Platonov, Fedor A; Burtseva, Tatiana E; Khusnutdinova, Elza K; Posukh, Olga L; Fedorova, Sardana A
白内障
发表日期：2021
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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

期刊:Diagnostics
影响因子:3.3
doi:10.3390/diagnostics11122378
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
发表日期：2021
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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。

期刊:Genes
影响因子:2.8
doi:10.3390/genes11070833
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
发表日期：2020
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A new approach to estimating the prevalence of hereditary hearing loss: An analysis of the distribution of sign language users based on census data in Russia

一种估算遗传性听力损失患病率的新方法：基于俄罗斯人口普查数据的手语使用者分布分析

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0242219
Romanov, Georgii P; Pshennikova, Vera G; Lashin, Sergey A; Solovyev, Aisen V; Teryutin, Fedor M; Cherdonova, Aleksandra M; Borisova, Tuyara V; Sazonov, Nikolay N; Khusnutdinova, Elza K; Posukh, Olga L; Fedorova, Sardana A; Barashkov, Nikolay A
发表日期：2020
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