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Clinical and genetic characteristics of the early 66th type epileptic encephalopathy (literature review and own observation) by T. V. Markova, A. O. Borovikov, E. R. Lozier, A. A. Isaev, V. S. Kaimonov, E. A. Pomerantseva, F. A. Konovalov, O. A. Schagina, E. L. Dadali
Published 2020-06-01
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Case of phenotype of optic nerve atrophy due to mutation in С19orf12 gene (neurodegeneration with the brain iron accumulation (nbia)) by M.E. Ivanova, V.V. Kadyshev, D.S. Atarshchikov, I.V. Zolnikova, N.P. Akchurina, N.K. Serova, F.A. Konovalov, E.R. Lozier, E.A. Pomerantseva, N.V. Vetrova, D. Barh, L.M. Balashova, J.M. Salmasi
Published 2020-03-01
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Epidemiologic, clinical and pathogenesis features of achromatopsia in the Russian population by M. E. Ivanova, I. V. Zolnikova, I. E. Khatsenko, V. V. Strelnikov, F. A. Konovalov, E. R. Lozier, M. A. Ampleeva, A. V. Antonets, I. V. Kanivets, K. V. Gorgisheli, D. S. Atarshchikov, D. V. Pyankov, S. A. Korostelev, E. B. Kuznetsova, D. Bar, L. M. Balashova, Zh. M. Salmasi
Published 2020-03-01
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