Epidemiology of hereditary eye disease in the populations of Russian Federation von Kadyshev, V.V., Ginter, E.K., Kutsev, S.I., Oganezova, Zh.G., Zinchenko, R.A.

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Clinical and genetic characteristics of a total or partial congenital aniridia von Sukhanova, N.V., Kadyshev, V.V., Vasilieva, T.A., Marakhonov, A.V., Katargina, L.A., Kutsev, S.I., Zinchenko, R.A.

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Clinical and genetic aspects of albinism von Kadyshev, V.V., Ryazhskaya, S.A., Khalanskaya, O.V., Zhurkova, N.V., Zinchenko, R.A.

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235 Association of the first phase xenobiotic biotransformation system genes with the risk of undesirable side effects and efficacy of antibiotic therapy in Russian CF children von Novoselova, O.G, Petrova, N.V, Kondratyeva, E.I, Sherman, V.D, Bikanov, R.A, Zinchenko, R.A

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Study of the hereditary non-syndromic ophthalmological pathology of child population of the Karachay-Cherkess Republic: estimations of genetic load and molecular genetic analysis von V.V. Kadyshev, A.V. Marakhonov, S.I. Kutsev, R.A. Zinchenko

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426 The study of CFTR mutations in healthy populations of Karachay-Cherkessia Republic von Vasilyeva, T.A, Petrova, N.V, Kashirskaya, N.Y, Makaov, A.K.-M, Bikanov, R.A, Ginter, E.K, Zinchenko, R.A

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17 Features of mutation spectrum in the Chechen CF patients from Russian Federation von Petrova, N.V, Kashirskaya, N.J, Saydaeva, D.K, Simonova, O.I, Kondratyeva, E.I, Novoselova, O.G, Vasilyeva, T.A, Bikanov, R.A, Ginter, E.K, Zinchenko, R.A

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High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-Cherkessia von Petrova, N.V, Kashirskaya, N.Yu, Vasilyeva, T.A, Timkovskaya, E.E, Voronkova, A.Yu, Shabalova, L.A, Kondratyeva, E.I, Sherman, V.D, Novoselova, O.G, Kapranov, N.I, Zinchenko, R.A, Ginter, E.K, Makaov, A.Kh-M, Kerem, B

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20 Genotype/phenotype correlation in Russian CF patients with Leu138dup mutation von Kashirskaya, N.Y, Petrova, N.V, Vasilyeva, T.A, Voronkova, A.Y, Kondratyeva, E.I, Sherman, V, Novoselova, O.G, Krasovsky, S.A, Chernyak, A.V, Amelina, E.L, Kapranov, N.I, Ginter, E.K, Kutsev, S.I, Zinchenko, R.A

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Strategy for prenatal diagnosis of cystic fibrosis in Russia von Petrova, N.V, Timkovskaya, E.E, Vasilyeva, T.A, Zinchenko, R.A

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Genotype-phenotype correlation in Russian CF patients von Petrova, N.V, Timkovskaya, E.E, Zinchenko, R.A, Kashirskaya, N.J

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Analysis of eNOS, TNFA, LTA, GSTM1, MBL2, HFE genes as modifier genes in Russian cystic fibrosis patients von Timkovskaya, E.E, Petrova, N.V, Kashirskaya, N.J, Zinchenko, R.A

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Analysis of CFTR mutations in hypertrypsinogenemic newborns in Russian population von Petrova, N.V, Kusova, Z.A, Vasilyeva, T.A, Timkovskaya, E.E, Kashirskaya, N.Y, Kapranov, N.I, Zinchenko, R.A

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Analysis of eNOS, TNFA, LTA, GSTM1, MBL2, ADRB2, HFE genes as modifier genes in Russian Cystic Fibrosis patients von Timkovskaya, E.E, Petrova, N.V, Kashirskaya, N.J, Kusova, Z.A, Zinchenko, R.A

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Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations von Vasilyeva, T.A., Voskresenskaya, A.A., Käsmann‐Kellner, B., Khlebnikova, O.V., Pozdeyeva, N.A., Bayazutdinova, G.M., Kutsev, S.I., Ginter, E.K., Semina, E.V., Marakhonov, A.V., Zinchenko, R.A.

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P006 Advanced search for CFTR gene mutations in Russian CF patients von Petrova, N.V., Vasilyeva, T.A., Kashirskaya, N.Y., Kondratyeva, E.I., Voronkova, A.Y., Sherman, V.D., Ginter, E.K., Zinchenko, R.A.

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P258 Searching for CFTR mutations in healthy children and CF paediatric patients from Russian populations von Zinchenko, R.A., Petrova, N.V., Vasilyeva, T.A., Kondratyeva, E.I., Voronkova, A.Y., Sherman, V.D., Ginter, E.K., Kashirskaya, N.Y.

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Study of hereditary non-syndromic ophthalmic pathology of child population of the Karachay-Cherkess Republic: features and structure of nosological spectrum von V.V. Kadyshev, A.V. Marakhonov, S.I. Kutsev, R.A. Zinchenko

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EPS2.01 Association of polymorphic variants of GSTT1, GSTM1, GSTP1 and GCLC genes with the severity of the cystic fibrosis clinical manifestations von Novoselova, O., Petrova, N.V., Krasovskiy, S.A., Kondratieva, E.I., Chakova, N.N., Bobrovnichy, V.I., Voronkova, A.Y., Sherman, V.D., Melyanovskaya, Y.L., Zinchenko, R.A.

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P260 Searching for CFTR mutations in CF patients from North Ossetia-Alania Republic, Russian Federation von Vasilyeva, T.A., Petrova, N.V., Kashirskaya, N.Y., Getoeva, Z.K., Dzhadzhieva, M.Y., Novoselova, O.G., Kondratyeva, E.I., Ginter, E.K., Zinchenko, R.A.

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