Genetic Landscape of Nephropathic Cystinosis in Russian Children
Savostyanov, K V, Pushkov, A A, Shchagina, O A, Maltseva, V V, Suleymanov, E A, Zhanin, I S, Mazanova, N N, Fisenko, A P, Mishakova, P S, Polyakov, A V, Balanovska, E V, Zinchenko, R A, Tsygin, A N
Published in Frontiers in genetics (28.04.2022)
Published in Frontiers in genetics (28.04.2022)
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Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus
Petrova, N V, Kashirskaya, N Y, Saydaeva, D K, Polyakov, A V, Adyan, T A, Simonova, O I, Gorinova, Y V, Kondratyeva, E I, Sherman, V D, Novoselova, O G, Vasilyeva, T A, Marakhonov, A V, Macek, Jr, M, Ginter, E K, Zinchenko, R A
Published in BMC medical genetics (21.03.2019)
Published in BMC medical genetics (21.03.2019)
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Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations
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.
Published in Clinical genetics (01.12.2017)
Published in Clinical genetics (01.12.2017)
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Main methodological approaches to the identification and diagnosis of monogenic hereditary diseases and problems in the organization of medical care and unified preventive programs
Zinchenko, R A, Kutsev, S I, Aleksandrova, O Yu, Ginter, E K
Published in Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsiny (01.09.2019)
Published in Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsiny (01.09.2019)
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Ethnic marriage assortativeness and intensity of metisation of Karachays
El’chinov, G. I, Shakmanov, M. M, Revazova, Yu. A, Ivanov, A. V, Rusakova, A. V, Zinchenko, R. A
Published in Russian journal of genetics (01.08.2015)
Published in Russian journal of genetics (01.08.2015)
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Results of the population and genetic study in the Republic of Tatarstan
El’chinova, G. I, Vasilyeva, T. A, El’kanova, L. A, Revazova, Yu. A, Petrova, N. V, Timkovskaya, E. E, Zinchenko, R. A
Published in Russian journal of genetics (01.05.2014)
Published in Russian journal of genetics (01.05.2014)
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Ethnically assortative marriage in the rural population of Tatarstan
El'chinova, G. I, Vafina, Z. I, Zinchenko, R. A
Published in Russian journal of genetics (01.02.2011)
Published in Russian journal of genetics (01.02.2011)
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The intermediate outcomes of delegation of obligations of medicinal support of patients with rare diseases to the Federal level in 2019-2020
Komarov, I A, Krasilnikova, E Yu, Aleksandrova, O Yu, Zinchenko, R A
Published in Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsiny (01.03.2022)
Published in Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsiny (01.03.2022)
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Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies
Andreeva, T V, Tyazhelova, T V, Rykalina, V N, Gusev, F E, Goltsov, A Yu, Zolotareva, O I, Aliseichik, M P, Borodina, T A, Grigorenko, A P, Reshetov, D A, Ginter, E K, Amelina, S S, Zinchenko, R A, Rogaev, E I
Published in Scientific reports (24.05.2016)
Published in Scientific reports (24.05.2016)
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Proximal spinal muscular atrophy 5q in the Republic of North Ossetia – Alania: population-genetic features, diagnostic problems and treatment prospects
Tebieva, I. S., Murtazina, A. F., Artemieva, S. B., Gabisova, Yu. V., Zinchenko, R. A.
Published in Nervno-myshechnye bolezni (09.06.2022)
Published in Nervno-myshechnye bolezni (09.06.2022)
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The normative legal regulation of medical care support of rare (orphan) diseases in adult population of The Russian Federation
Vasilieva, T P, Komarov, I A, Aleksandrova, O Yu, Zinchenko, R A
Published in Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsiny (01.03.2021)
Published in Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsiny (01.03.2021)
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Аutosomal Dominant Oculodental-Digital Dysplasia with Mutation in Gene GJA1 (Clinical Case)
Zolnikova, I. V., Kadyshev, V. V., Marakhonov, A. V., Kutsev, S. I., Zinchenko, R. A.
Published in Oftalmologii͡a (04.04.2021)
Published in Oftalmologii͡a (04.04.2021)
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Surname distribution and random inbreeding in Kirov oblast
El'chinova, G. I, Terekhovskaya, I. G, Osetrova, A. A, Poryadina, O. A, Zinchenko, R. A
Published in Russian journal of genetics (01.10.2009)
Published in Russian journal of genetics (01.10.2009)
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Clinical manifestations of familial exudative vitreoretinopathy in children with nucleotide sequence alterations in the FZD4 gene
Katargina, L. A., Kadyshev, V. V., Denisova, E. V., Geraskina, E. A., Marakhonov, A. V., Garifullina, S. A., Zolnikova, I. V., Zinchenko, R. A.
Published in Rossiĭskiĭ oftalʹmologicheskiĭ zhurnal (01.01.2022)
Published in Rossiĭskiĭ oftalʹmologicheskiĭ zhurnal (01.01.2022)
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