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

Get full text

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

Get full text

Proximal spinal muscular atrophy 5q in the Republic of North Ossetia – Alania: population-genetic features, diagnostic problems and treatment prospects by I. S. Tebieva, A. F. Murtazina, S. B. Artemieva, Yu. V. Gabisova, R. A. Zinchenko

Get full text

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

Get full text

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

Get full text

Genetic variants of congenital glaucoma. Analysis of the literature and description of the clinical case by L. A. Katargina, V. V. Kadyshev, A. A. Sorokin, A. V. Pleskova, R. A. Zinchenko

Get full text

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

Get full text

Analyzing the efficacy of a novel method for detecting achromatopsia by N.V. Sukhanova, S.I. Rychkova, V.G. Likhvantseva, R.I. Sandimirov, V.V. Kadyshev, R.A. Zinchenko

Get full text

Clinical And Molecular-Genetic Features Of Congenital Aniridia by T.A. Vasilieva, Voskresenskaya A. A, V.V. Kadyshev, N.A. Pozdeeva, A.V. Marakhonov, R.A. Zinchenko

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

Clinical manifestations of familial exudative vitreoretinopathy in children with nucleotide sequence alterations in the FZD4 gene by L. A. Katargina, V. V. Kadyshev, E. V. Denisova, E. A. Geraskina, A. V. Marakhonov, S. A. Garifullina, I. V. Zolnikova, R. A. Zinchenko

Get full text

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

Get full text

Socioeconomic efficiency of neonatal screening for spinal muscular atrophy in the Russian Federation by I. A. Komarov, A. R. Malakhova, T. P. Vasilyeva, E. Yu. Shukan, O. Yu. Aleksandrova, R. A. Zinchenko, A. V. Polyakov, S. S. Nikitin, E. Yu. Sapego, S. I. Kutsev

Get full text

Clinical and Genetic Correlations of Inherital Retinal Disease with Mutations in the ABCA4 Gene by Patients of the Russian Population by I. V. Zolnikova, V. V. Kadyshev, A. V. Marakhonov, A. B. Chernyak, S. V. Milash, Yu. A. Bobrovskaya, N. A. Urakova, N. Sh. Kokoeva, S. I. Kutsev, R. A. Zinchenko

Get full text

Genetic Landscape of Nephropathic Cystinosis in Russian Children by K. V. Savostyanov, A. A. Pushkov, O. A. Shchagina, V. V. Maltseva, E. A. Suleymanov, I. S. Zhanin, N. N. Mazanova, A. P. Fisenko, P. S. Mishakova, A. V. Polyakov, E. V. Balanovska, R. A. Zinchenko, A. N. Tsygin

Get full text

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

Get full text

First results of long-term follow-up of children in Russia after gene therapy for hereditary retinal dystrophies associated with biallelic mutations in the RPE65 gene by V. V. Neroev, L. A. Katargina, M. P. Kharlampidi, L. V. Kogoleva, I. V. Zolnikova, P. A. Ilyukhin, E. V. Denisova, S. V. Milash, N. A. Osipova, S. I. Kutsev, A. V. Polyakov, R. A. Zinchenko, V. V. Kadyshev, Yu. A. Bobrovskaya

Get full text