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Scientific Reports
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July 3, 2024
High prevalence of m.1555A > G in patients with hearing loss in the Baikal Lake region of Russia as a result of founder effect
Tuyara V Borisova, Aleksandra M Cherdonova, Vera G Pshennikova, et al.
International Journal of Circumpolar Health
|
June 20, 2019
A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the <i>MITF</i> gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia)
Nikolay A Barashkov, Georgii P Romanov, Uigulaana P Borisova, et al.
Journal of Community Genetics
|
March 22, 2017
Opinions of hearing parents about the causes of hearing impairment of their children with biallelic GJB2 mutations
Aisen V Solovyev, Lilya U Dzhemileva, Olga L Posukh, et al.
International Journal of Pediatric Otorhinolaryngology
|
December 31, 2017
A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2)
Nikolay A Barashkov, Leonid A Klarov, Fedor M Teryutin, et al.
Thescientificworldjournal
|
April 25, 2019
Comparison of Predictive <i>In Silico</i> Tools on Missense Variants in <i>GJB2</i>, <i>GJB6</i>, and <i>GJB3</i> Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)
Vera G Pshennikova, Nikolay A Barashkov, Georgii P Romanov, et al.
European Journal of Human Genetics : EJHG
|
March 26, 2021
Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene
Nikolay A Barashkov, Fedor A Konovalov, Tuyara V Borisova, et al.
Plos One
|
May 26, 2016
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)
Nikolay A Barashkov, Vera G Pshennikova, Olga L Posukh, et al.
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Showing results (21-30 of 27) with videos related to
Sort By:
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This site can display upto 27 results.
Scientific Reports
|
July 3, 2024
High prevalence of m.1555A > G in patients with hearing loss in the Baikal Lake region of Russia as a result of founder effect
Tuyara V Borisova, Aleksandra M Cherdonova, Vera G Pshennikova, et al.
International Journal of Circumpolar Health
|
June 20, 2019
A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the <i>MITF</i> gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia)
Nikolay A Barashkov, Georgii P Romanov, Uigulaana P Borisova, et al.
Journal of Community Genetics
|
March 22, 2017
Opinions of hearing parents about the causes of hearing impairment of their children with biallelic GJB2 mutations
Aisen V Solovyev, Lilya U Dzhemileva, Olga L Posukh, et al.
International Journal of Pediatric Otorhinolaryngology
|
December 31, 2017
A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2)
Nikolay A Barashkov, Leonid A Klarov, Fedor M Teryutin, et al.
Thescientificworldjournal
|
April 25, 2019
Comparison of Predictive <i>In Silico</i> Tools on Missense Variants in <i>GJB2</i>, <i>GJB6</i>, and <i>GJB3</i> Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)
Vera G Pshennikova, Nikolay A Barashkov, Georgii P Romanov, et al.
European Journal of Human Genetics : EJHG
|
March 26, 2021
Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene
Nikolay A Barashkov, Fedor A Konovalov, Tuyara V Borisova, et al.
Plos One
|
May 26, 2016
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)
Nikolay A Barashkov, Vera G Pshennikova, Olga L Posukh, et al.
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