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Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy.
Invest Ophthalmol Vis Sci. 2020 Nov 2;61(13):2. doi: 10.1167/iovs.61.13.2.
Invest Ophthalmol Vis Sci. 2020.
PMID: 33137195
Free PMC article.
[Clinical and genetic characteristics of epilepsy caused by mutations in the PCDH19 gene (OMIM: 300088)].
Dadali EL, Mishina IA, Borovikov AO, Sharkov AA, Kanivets IV.
Dadali EL, et al. Among authors: mishina ia.
Zh Nevrol Psikhiatr Im S S Korsakova. 2020;120(1):55-61. doi: 10.17116/jnevro202012001155.
Zh Nevrol Psikhiatr Im S S Korsakova. 2020.
PMID: 32105270
Russian.
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Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report.
Marakhonov AV, Mishina IA, Kadyshev VV, Repina SA, Shurygina MF, Shchagina OA, Vasserman NN, Vasilyeva TA, Kutsev SI, Zinchenko RA.
Marakhonov AV, et al. Among authors: mishina ia.
BMC Med Genet. 2020 Oct 22;21(Suppl 1):156. doi: 10.1186/s12881-020-01093-z.
BMC Med Genet. 2020.
PMID: 33092543
Free PMC article.
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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu M, Jan…
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Johannesen KM, et al.
Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321.
Brain. 2022.
PMID: 34431999
Free PMC article.
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TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study.
Shatokhina O, Kovalskaia V, Sparber P, Sharkova I, Mishina I, Kuznetsova V, Ryzhkova O.
Shatokhina O, et al.
Int J Mol Sci. 2023 Oct 25;24(21):15572. doi: 10.3390/ijms242115572.
Int J Mol Sci. 2023.
PMID: 37958557
Free PMC article.
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Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report.
Levchenko O, Filatova A, Mishina I, Antonenko A, Skoblov M.
Levchenko O, et al.
Front Genet. 2023 Jul 6;14:1197681. doi: 10.3389/fgene.2023.1197681. eCollection 2023.
Front Genet. 2023.
PMID: 37485342
Free PMC article.
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[Effect of phospholipase on cation-induced transmembrane transport of DNA in Escherichia coli].
Sabel'nikov AG, Mishina IA, Vasilenko IA, Il'iashenko BN.
Sabel'nikov AG, et al. Among authors: mishina ia.
Mol Gen Mikrobiol Virusol. 1988 Mar;(3):43-8.
Mol Gen Mikrobiol Virusol. 1988.
PMID: 3043211
Russian.
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