The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania von Ionova, Sofya A, Murtazina, Aysylu F, Marakhonov, Andrey A, Shchagina, Olga A, Ryadninskaya, Nina V, Tebieva, Inna S, Kadyshev, Vitaly V, Borovikov, Artem O, Ginter, Evgeny K, Kutsev, Sergey I, Zinchenko, Rena 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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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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Study of the Role of the Main Factors of Population Dynamics in the Mechanism of Differentiation and Formation of Diversity and Genetic Load of Hereditary Diseases in Subpopulation... von Zinchenko, R. A., El’chinova, G. I., Bikanov, R. A., Marakhonov, A. V., Kadyshev, V. V., Kutsev, S. I., Ginter, E. K.

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Clouston Syndrome: First Case in Russia von Marakhonov, A, Skoblov, M, Galkina, V, 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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Clinical and Genetic Correlations of Inherital Retinal Disease with Mutations in the ABCA4 Gene by Patients of the Russian Population von Zolnikova, I. V., Kadyshev, V. V., Marakhonov, A. V., Chernyak, A. B., Milash, S. V., Bobrovskaya, Yu. A., Urakova, N. A., Kokoeva, N. Sh, Kutsev, S. I., Zinchenko, R. A.

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646: Frequency of CFTR complex alleles associated with p.Phe508del in Russian cystic fibrosis patients von Kashirskaya, N., Petrova, N., Marakhonov, A., Kutsev, S., Zinchenko, R.

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RANDTRAN: Random transcriptome sequence generator that accounts for partition specific features in eukaryotic mRNA datasets von Borzov, E. A., Marakhonov, A. V., Ivanov, M. V., Drozdova, P. B., Baranova, A. V., Skoblov, M. Yu

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Characteristics of the mutation spectrum identified by comprehensive investigation of the CFTR gene in the Russian patients von Petrova, N. V., Marakhonov, A. Yu, Vasilyeva, T. A., Kashirskaya, N. Yu, Kondratyeva, E. I., Zhekayte, E. K., Voronkova, A. Yu, Sherman, V. D., Galkina, V. A., Ginter, E. K., Kutsev, S. I., Zinchenko, R. A.

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Therapeutic siRNAs and nonviral systems for their delivery von Glebova, K. V., Marakhonov, A. V., Baranova, A. V., Skoblov, M. Yu

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Nonviral delivery systems for small interfering RNAs von Glebova, K. V., Marakhonov, A. V., Baranova, A. V., Skoblov, M. Yu

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Study of the Karachay Population Based on the Analysis of Ten Polymorphic DNA Loci von Petrova, N. V., Marakhonov, A. V., Balinova, N. V., Vasilyeva, T. A., El’chinova, G. I., Ginter, E. K., Zinchenko, R. A.

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P011 Comprehensive analysis of CFTR mutation spectrum in Russians von Zinchenko, R., Petrova, N., Vasilyeva, T., Kashirskaya, N., Kondratyeva, E., Voronkova, A., Sherman, V., Marakhonov, A., Galkina, V., Ginter, E.

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P008 Spectrum and frequency of CFTR gene mutations in cystic fibrosis patients from the southern Russian and North Caucasus regions von Petrova, N., Kashirskaya, N., Vasilyeva, T., Voronkova, A., Kondratyeva, E., Sherman, V., Galkina, V., Marakhonov, A., Ginter, E., Kutsev, S., Zinchenko, R.

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Sodium Channelopathies: From Molecular Physiology towards Medical Genetics von Marakhonov, A. V., Varenikov, G. G., Skoblov, M. Yu

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PAX6 Gene Characteristic and Causative Role of PAX6 Mutations in Inherited Eye Pathologies von Vasilyeva, T. A., Voskresenskaya, A. A., Pozdeyeva, N. A., Marakhonov, A. V., Zinchenko, R. A.

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The Load and Diversity of Monogenic Hereditary Pathology among the Child Population of Kirov Region von Zinchenko, R. A., Kadyshev, V. V., Galkina, V. A., El’chinova, G. I., Marakhonov, A. V., Alexandrova, O. Yu, Kutsev, S. I.

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Antisense regulation of human gene MAP3K13: True phenomenon or artifact? von Marakhonov, A. V., Baranova, A. V., Skoblov, M. Yu

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