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Year Number of Results
2002 1
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2008 1
2010 1
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2018 4
2019 4
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2022 1
2023 2
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Page 1
Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene.
Barashkov NA, Konovalov FA, Borisova TV, Teryutin FM, Solovyev AV, Pshennikova VG, Sapojnikova NV, Vychuzhina LS, Romanov GP, Gotovtsev NN, Morozov IV, Bondar AA, Platonov FA, Burtseva TE, Khusnutdinova EK, Posukh OL, Fedorova SA. Barashkov NA, et al. Among authors: bondar aa. Eur J Hum Genet. 2021 Jun;29(6):965-976. doi: 10.1038/s41431-021-00833-w. Epub 2021 Mar 25. Eur J Hum Genet. 2021. PMID: 33767456 Free PMC article.
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).
Barashkov NA, Romanov GP, Borisova UP, Solovyev AV, Pshennikova VG, Teryutin FM, Bondar AA, Morozov IV, Khusnutdinova EK, Posukh OL, Burtseva TE, Odland JØ, Fedorova SA. Barashkov NA, et al. Among authors: bondar aa. Int J Circumpolar Health. 2019 Dec;78(1):1630219. doi: 10.1080/22423982.2019.1630219. Int J Circumpolar Health. 2019. PMID: 31213145 Free PMC article.
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 OL, Zytsar MV, Bady-Khoo MS, Danilchenko VY, Maslova EA, Barashkov NA, Bondar AA, Morozov IV, Maximov VN, Voevoda MI. Posukh OL, et al. Among authors: bondar aa. Genes (Basel). 2019 Jun 5;10(6):429. doi: 10.3390/genes10060429. Genes (Basel). 2019. PMID: 31195736 Free PMC article.
Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A).
Pshennikova VG, Barashkov NA, Romanov GP, Teryutin FM, Solov'ev AV, Gotovtsev NN, Nikanorova AA, Nakhodkin SS, Sazonov NN, Morozov IV, Bondar AA, Dzhemileva LU, Khusnutdinova EK, Posukh OL, Fedorova SA. Pshennikova VG, et al. Among authors: bondar aa. ScientificWorldJournal. 2019 Mar 20;2019:5198931. doi: 10.1155/2019/5198931. eCollection 2019. ScientificWorldJournal. 2019. PMID: 31015822 Free PMC article.
24 results