Development of the Vector Finder Toolkit for Track Reconstruction in the BM@N Experiment von Zinchenko, D. A., Nikonov, E. G., Zinchenko, A. I., Zinchenko, R. A.

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Lisfranc injuries von Welck, M.J, Zinchenko, R, Rudge, B

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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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Clinical and genetic characterization of patients with cystic fibrosis and functional assessment of the chloride channel with the pathogenic variant c.831G>A (p.Trp277), described... von Kondratyeva, E., Efremova, A., Melyanovskaya, Yu, Petrova, N., Satsuk, N., Bulatenko, N., Bukharova, T., Zodbinova, A., Sherman, V., Kashirskaya, N., Zinchenko, R., Kutsev, S., Goldshtein, D.

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Genetic Landscape of Nephropathic Cystinosis in Russian Children von 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

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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 Caucasu... von 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

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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 von 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.

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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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Development of a Vector Finder Toolkit for Track Reconstruction at NICA Experiments: Current Status and Future Prospects von Zinchenko, D., Zinchenko, A., Zinchenko, R., Nikonov, E.

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Marriage and migratory characteristics of the urban population of Karachay-Cherkessia (End of the 20th century) von El’chinova, G. I., Zinchenko, R. A.

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

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Ethnic marriage assortativeness and intensity of metisation of Karachays von El’chinov, G. I, Shakmanov, M. M, Revazova, Yu. A, Ivanov, A. V, Rusakova, A. V, Zinchenko, R. A

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Mutation spectrum of the PAH gene in phenylketonuria patients in the Karachay-Cherkess Republic (Russia) von Gundorova, P., Stepanova, A. A., Makaov, A. Kh, Zinchenko, R. A., Abaykhanova, Z. M., Polyakov, A. V.

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

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

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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 von Neroev, V. V., Katargina, L. A., Kharlampidi, M. P., Kogoleva, L. V., Zolnikova, I. V., Ilyukhin, P. A., Denisova, E. V., Milash, S. V., Osipova, N. A., Kutsev, S. I., Polyakov, A. V., Zinchenko, R. A., Kadyshev, V. V., Bobrovskaya, Yu. A.

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258 Survival trends and costs of the treatment in the cystic fibrosis patients from Moscow (retrospective analysis 1993–2013) von Kashirskaya, N, Krasovsky, S, Chernyak, A, Sherman, V, Voronkova, A, Shabalova, L, Nikonova, V, Gorinova, Y, Simonova, O, Amelina, E, Samoilenko, V, Kondratyeva, E, Kapranov, N, Petrova, N, Zinchenko, R

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265 Phenotypic features in CF patients with p.Leu138dup mutation von Petrova, N, Kashirskaya, N, Vasilyeva, T, Timkovskaya, E, Voronkova, A, Kondratyeva, E, Sherman, V, Novoselova, O, Krasovsky, S, Chernyak, A, Amelina, E, Kapranov, N, Kutsev, S, Ginter, E, Zinchenko, R

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Аutosomal Dominant Oculodental-Digital Dysplasia with Mutation in Gene GJA1 (Clinical Case) von Zolnikova, I. V., Kadyshev, V. V., Marakhonov, A. V., Kutsev, S. I., Zinchenko, R. A.

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

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