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Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel.
Shatokhina O, Galeeva N, Stepanova A, Markova T, Lalayants M, Alekseeva N, Tavarkiladze G, Markova T, Bessonova L, Petukhova M, Guseva D, Anisimova I, Polyakov A, Ryzhkova O, Bliznetz E. Shatokhina O, et al. Int J Mol Sci. 2022 Dec 12;23(24):15748. doi: 10.3390/ijms232415748. Int J Mol Sci. 2022. PMID: 36555390 Free PMC article.
BH4-deficient hyperphenylalaninemia in Russia.
Gundorova P, Kuznetcova IA, Baydakova GV, Stepanova AA, Itkis YS, Kakaulina VS, Alferova IP, Lyazina LV, Andreeva LP, Kanivets I, Zakharova EY, Kutsev SI, Polyakov AV. Gundorova P, et al. Among authors: stepanova aa. PLoS One. 2021 Apr 6;16(4):e0249608. doi: 10.1371/journal.pone.0249608. eCollection 2021. PLoS One. 2021. PMID: 33822819 Free PMC article.
X-linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation.
Milovidova TB, Schagina OA, Freire MV, Demina NA, Filatova AY, Skoblov MY, Stepanova AA, Chuhrova AL, Polyakov AV. Milovidova TB, et al. Among authors: stepanova aa. J Eur Acad Dermatol Venereol. 2019 Dec;33(12):e468-e470. doi: 10.1111/jdv.15798. Epub 2019 Jul 30. J Eur Acad Dermatol Venereol. 2019. PMID: 31306530 Free article. No abstract available.
43 results