Study of the hereditary non-syndromic ophthalmological pathology of child population of the Karachay-Cherkess Republic: estimations of genetic load and molecular genetic analysis

by V.V. Kadyshev, A.V. Marakhonov, S.I. Kutsev, R.A. Zinchenko
Published 2018-09-01

Study of hereditary non-syndromic ophthalmic pathology of child population of the Karachay-Cherkess Republic: features and structure of nosological spectrum

by V.V. Kadyshev, A.V. Marakhonov, S.I. Kutsev, R.A. Zinchenko
Published 2019-04-01

Association of polymorphisms of NO synthases and arginase genes, clinical, laboratory and functional indicators with the level of nitrogen oxide in exhaled air in children with bro...

by B. T. Batozhargalova, S. E. Diakova, N. V. Petrova, Yu. L. Mizernitsky, R. A. Zinchenko
Published 2019-11-01

Аutosomal Dominant Oculodental-Digital Dysplasia with Mutation in Gene GJA1 (Clinical Case)

by I. V. Zolnikova, V. V. Kadyshev, A. V. Marakhonov, S. I. Kutsev, R. A. Zinchenko
Published 2021-04-01

Clinical and genetic aspects of albinism

by V.V. Kadyshev, S.A. Ryazhskaya, O.V. Khalanskaya, N.V. Zhurkova, R.A. Zinchenko
Published 2021-09-01

Clinical And Molecular-Genetic Features Of Congenital Aniridia

by Vasilyeva T. A., Voskresenskaya A. A, V.V. Kadyshev, Pozdeyeva N. A., A.V. Marakhonov, R.A. Zinchenko
Published 2018-07-01

The clinical spectrum and prevalence of hereditary ophthalmopathology child population in 12 districts of the Rostov region

by O. L. Kireeva, O. V. Chlebnikova, S. S. Amelina, G. I. Elchinova, R. A. Zinchenko, V. V. Kadsjyshev, E. K. Ginter
Published 2014-07-01

RESULTS OF MASS SCREENING OF NEWBORNS WITH CYSTIC FIBROSIS IN MOSCOW

by Z.A. Kusova, N.V. Petrova, T.A. Vasil'eva, N.Yu. Kashirskaya, R.A. Zinchenko, N.I. Kapranov
Published 2010-11-01

The clinical spectrum and prevalence of hereditary ophthalmopathology child population in 12 districts of the Rostov region

by O. L. Kireeva, O. V. Chlebnikova, S. S. Amelina, G. I. Elchinova, R. A. Zinchenko, V. V. Kadsjyshev, E. K. Ginter
Published 2014-07-01

RESULTS OF MASS SCREENING OF NEWBORNS WITH CYSTIC FIBROSIS IN MOSCOW

by Z.A. Kusova, N.V. Petrova, T.A. Vasil'eva, N.Yu. Kashirskaya, R.A. Zinchenko, N.I. Kapranov
Published 2010-01-01

Aicardi–Goutieres syndrome in children with idiopathic epilepsy

by N. O. Bryukhanova, S. S. Zhilina, S. O. Aivazyan, T. V. Ananieva, M. S. Belenikin, T. V. Kozhanova, T. I. Meshcheryakova, R. A. Zinchenko, G. R. Mutovin, N. N. Zavadenko
Published 2016-04-01

Choroideremia with Mutation in CHM Gene. Clinical Cases with Literature Review

by I. V. Zolnikova, S. V. Milash, V. V. Kadyshev, A. B. Chernyak, D. V. Levina, R. A. Zinchenko, I. V. Egorova, E. A. Eremeeva, S. Y. Rogova
Published 2019-03-01

Characteristics of the mutation spectrum identified by comprehensive investigation of the <i>CFTR </i>gene in the Russian patients

by N. V. Petrova, A. Yu. Marakhonov, T. A. Vasilyeva, N. Yu. Kashirskaya, E. I. Kondratyeva, E. K. Zhekayte, A. Yu. Voronkova, V. D. Sherman, V. A. Galkina, E. K. Ginter, S. I. Kutsev, R. A. Zinchenko
Published 2019-02-01

Trends in Life Expectancy of Cystic Fibrosis Patients in Moscow and their Connection with the Treatment Received: Retrospective Analysis for 1993–2013

by N. Yu. Kashirskaya, S. A. Krasovsky, A. V. Chernyak, V. D. Sherman, A. Yu. Voronkova, L. A. Shabalova, V. S. Nikonova, Yu. V. Gorinova, O. I. Simonova, E. L. Amelina, E. I. Kondrat’eva, N. I. Kapranov, N. V. Petrova, R. A. Zinchenko
Published 2015-09-01

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 Caucasu...

by N. V. Petrova, N. Y. Kashirskaya, D. K. Saydaeva, A. V. Polyakov, T.A. Adyan, O. I. Simonova, Y. V. Gorinova, E. I. Kondratyeva, V. D. Sherman, O. G. Novoselova, T. A. Vasilyeva, A. V. Marakhonov, M. Macek, E. K. Ginter, R. A. Zinchenko
Published 2019-03-01