Hasil Pencarian - Olga L. Posukh

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  1. 1
    Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the <i>GJB2</i> (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss

    Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the <i>GJB2</i> (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss oleh Ekaterina A. Maslova, Konstantin E. Orishchenko, Olga L. Posukh

    Diterbitkan 2021-01-01
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  2. 2
    Selection of Diagnostically Significant Regions of the <i>SLC26A4</i> Gene Involved in Hearing Loss

    Selection of Diagnostically Significant Regions of the <i>SLC26A4</i> Gene Involved in Hearing Loss oleh Valeriia Yu. Danilchenko, Marina V. Zytsar, Ekaterina A. Maslova, Olga L. Posukh

    Diterbitkan 2022-11-01
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  3. 3
    Functional Consequences of Pathogenic Variants of the <i>GJB2</i> Gene (Cx26) Localized in Different Cx26 Domains

    Functional Consequences of Pathogenic Variants of the <i>GJB2</i> Gene (Cx26) Localized in Different Cx26 Domains oleh Olga L. Posukh, Ekaterina A. Maslova, Valeriia Yu. Danilchenko, Marina V. Zytsar, Konstantin E. Orishchenko

    Diterbitkan 2023-10-01
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  4. 4
    Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).

    Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia). oleh Alexander Y Сhurbanov, Tatiana M Karafet, Igor V Morozov, Valeriia Yu Mikhalskaia, Marina V Zytsar, Alexander A Bondar, Olga L Posukh

    Diterbitkan 2016-01-01
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  5. 5
    Different Rates of the <i>SLC26A4</i>-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia)

    Different Rates of the <i>SLC26A4</i>-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia) oleh 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

    Diterbitkan 2021-12-01
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  6. 6
    Association Analysis of Genetic Variants with Type 2 Diabetes in a Mongolian Population in China

    Association Analysis of Genetic Variants with Type 2 Diabetes in a Mongolian Population in China oleh Haihua Bai, Haiping Liu, Suyalatu Suyalatu, Xiaosen Guo, Shandan Chu, Ying Chen, Tianming Lan, Burenbatu Borjigin, Yuriy L. Orlov, Olga L. Posukh, Xiuqin Yang, Guilan Guilan, Ludmila P. Osipova, Qizhu Wu, Narisu Narisu

    Diterbitkan 2015-01-01
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  7. 7
    Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia

    Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia oleh Marina V. Zytsar, Nikolay A. Barashkov, Marita S. Bady-Khoo, Olga A. Shubina-Olejnik, Nina G. Danilenko, Alexander A. Bondar, Igor V. Morozov, Aisen V. Solovyev, Valeriia Yu. Danilchenko, Vladimir N. Maximov, Olga L. Posukh

    Diterbitkan 2018-08-01
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  8. 8
    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.

    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. oleh Georgii P Romanov, Vera G Pshennikova, Sergey A Lashin, Aisen V Solovyev, Fedor M Teryutin, Aleksandra M Cherdonova, Tuyara V Borisova, Nikolay N Sazonov, Elza K Khusnutdinova, Olga L Posukh, Sardana A Fedorova, Nikolay A Barashkov

    Diterbitkan 2020-01-01
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  9. 9
    Agent-Based Modeling of Autosomal Recessive Deafness 1A (DFNB1A) Prevalence with Regard to Intensity of Selection Pressure in Isolated Human Population

    Agent-Based Modeling of Autosomal Recessive Deafness 1A (DFNB1A) Prevalence with Regard to Intensity of Selection Pressure in Isolated Human Population oleh Georgii P. Romanov, Anna A. Smirnova, Vladimir I. Zamyatin, Aleksey M. Mukhin, Fedor V. Kazantsev, Vera G. Pshennikova, Fedor M. Teryutin, Aisen V. Solovyev, Sardana A. Fedorova, Olga L. Posukh, Sergey A. Lashin, Nikolay A. Barashkov

    Diterbitkan 2022-02-01
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  10. 10
    A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the MITF gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia)

    A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the MITF gene in Yakut patient from the Eastern Siberia (Sakha R... oleh Nikolay A. Barashkov, Georgii P. Romanov, Uigulaana P. Borisova, Aisen V. Solovyev, Vera G. Pshennikova, Fedor M. Teryutin, Alexander A. Bondar, Igor V. Morozov, Elza K. Khusnutdinova, Olga L. Posukh, Tatiana E. Burtseva, Jon Øyvind Odland, Sardana A. Fedorova

    Diterbitkan 2019-01-01
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  11. 11
    Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)

    Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A) oleh Vera G. Pshennikova, Nikolay A. Barashkov, Georgii P. Romanov, Fedor M. Teryutin, Aisen V. Solov’ev, Nyurgun N. Gotovtsev, Alena A. Nikanorova, Sergey S. Nakhodkin, Nikolay N. Sazonov, Igor V. Morozov, Alexander A. Bondar, Lilya U. Dzhemileva, Elza K. Khusnutdinova, Olga L. Posukh, Sardana A. Fedorova

    Diterbitkan 2019-01-01
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  12. 12
    Age-Related Hearing Impairment (ARHI) associated with GJB2 single mutation IVS1+1G>A in the Yakut population isolate in Eastern Siberia.

    Age-Related Hearing Impairment (ARHI) associated with GJB2 single mutation IVS1+1G>A in the Yakut population isolate in Eastern Siberia. oleh Nikolay A Barashkov, Fedor M Teryutin, Vera G Pshennikova, Aisen V Solovyev, Leonid A Klarov, Natalya A Solovyeva, Andrei A Kozhevnikov, Lena M Vasilyeva, Elvira E Fedotova, Maria V Pak, Sargylana N Lekhanova, Elena V Zakharova, Kyunney E Savvinova, Nyurgun N Gotovtsev, Adyum M Rafailo, Nikolay V Luginov, Anatoliy N Alexeev, Olga L Posukh, Lilya U Dzhemileva, Elza K Khusnutdinova, Sardana A Fedorova

    Diterbitkan 2014-01-01
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  13. 13
    Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic).

    Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic). oleh Nikolay A Barashkov, Vera G Pshennikova, Olga L Posukh, Fedor M Teryutin, Aisen V Solovyev, Leonid A Klarov, Georgii P Romanov, Nyurgun N Gotovtsev, Andrey A Kozhevnikov, Elena V Kirillina, Oksana G Sidorova, Lena M Vasilyevа, Elvira E Fedotova, Igor V Morozov, Alexander A Bondar, Natalya A Solovyevа, Sardana K Kononova, Adyum M Rafailov, Nikolay N Sazonov, Anatoliy N Alekseev, Mikhail I Tomsky, Lilya U Dzhemileva, Elza K Khusnutdinova, Sardana A Fedorova

    Diterbitkan 2016-01-01
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