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Ekaterina Maslova

Department: -
Pluralist: Scientific Educational Department
Room: 3412
Email: maslova@bionet.nsc.ru
Work phone: +7 (383) 363-49-63*3412


Publications

2023 Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains
Olga L. Posukh, Ekaterina A. Maslova, Valeriia Yu. Danilchenko, Marina V. Zytsar, Konstantin E. Orishchenko
[Biomolecules]
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)
Danilchenko V. Y., Zytsar M. V., Maslova E. A., Orishchenko K.E, Posukh O.L.
[Genes]
2022 Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss
Danilchenko V.Y.; Zytsar M.V.; Maslova E.A.; Posukh O.L.
[INT J MOL SCI]
2021 Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia)
Valeriia Yu. Danilchenko, Marina V. Zytsar, Ekaterina A. Maslova, Marita S. Bady-Khoo, Nikolay A. Barashkov, Igor V. Morozov, Alexander A. Bondar, Olga L. Posukh
[Diagnostics]
Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss.
Maslova E.A., Orishchenko K.E., Posukh O.L.
[Biomolecules]
2020 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.
Zytsar M.V., Bady-Khoo M.S., Danilchenko V.Y., Maslova E.A., Barashkov N.A., Morozov I.V., Bondar A.A., Posukh O.L.
[Genes]
Анализ мутационного спектра гена SLC26A4 и его вклада в этиологию наследуемой потери слуха у коренного населения Южной Сибири.
Данильченко В.Ю., Зыцарь М.В., Маслова Е.А., Бады-Хоо М.С., Морозов И.В., Бондарь А.А., Посух О.Л.
[Медицинская генетика]
Изучение функциональной значимости варианта с.516G>C (p.Trp172Cys) гена GJB2, ассоциированного с потерей слуха у коренного населения Южной Сибири
Маслова Е.А., Зыцарь М.В., Данильченко В.Ю., Орищенко К.Е., Посух О.Л.
[Медицинская генетика]
2019 Unique mutational spectrum of the GJB2 gene and its pathogenic contribution to deafness in Tuvinians (Southern Siberia, Russia): a high prevalence of rare variant c.516G>C (p.Trp172Cys).
Posukh O.L., Zytsar M.V., Bady-Khoo M.S., Danilchenko V.Yu., Maslova E.A., Barashkov N.A., Bondar A.A., Morozov I.V., Maximov V.N., Voevoda M.I.
[Genes]
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