Path of a patient with a rare diagnosis: regulatory documents and organization of the process of treatment and diagnosis of an orphan disease in the Russian Federation por S. I. Kutsev

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Molecular genetics monitoring of tyrosine kinase inhibitor therapy for chronic myeloid leukemia por S. I. Kutsev, M. V. Velchenko, A. N. Zelzer

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Efficacy and tolerability of a specialized dietary therapeutic product in long-chain and very long-chain fatty acid metabolism disorders 
in children por N.A. Semenova, E.A. Shestopalova, S.I. Kutsev

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The use of specialized products of children’s dietary medical nutrition for children with organic aciduria (acidemia) por N. A. Semenova, E. A. Shestopalova, L. V. Lyazina, S. I. Kutsev

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SMArt Retro study: a retrospective data analysis of the Russian registry of patients with spinal muscular atrophy por D. V. Vlodavets, O. A. Shchagina, A. V. Polyakov, S. I. Kutsev

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Study of hereditary non-syndromic ophthalmic pathology of child population of the Karachay-Cherkess Republic: features and structure of nosological spectrum por V.V. Kadyshev, A.V. Marakhonov, S.I. Kutsev, R.A. Zinchenko

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Study of the hereditary non-syndromic ophthalmological pathology of child population of the Karachay-Cherkess Republic: estimations of genetic load and molecular genetic analysis por V.V. Kadyshev, A.V. Marakhonov, S.I. Kutsev, R.A. Zinchenko

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

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Prospects for the diagnosis and gene therapy of inherited retinal dystrophies caused by biallelic mutations in the RPE65 gene por V. V. Neroev, L. A. Katargina, V. V. Kadyshev, I. V. Zolnikova, S. I. Kutsev

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

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EPIDEMIOLOGICAL INDICATOR VALUE IN THE IODINE AVAILABILITY ASSESSMENT — EVIDENCE FROM THE REGIONS OF THE RUSSIAN FEDERATION por E. A. Troshina, A. A. Rybakova, S. I. Kutsev, N. М. Platonova, E. A. Panfilova, P. O. Osmanova

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

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Current Approaches to the Treatment of Hunter Syndrome por Ekaterina Yu. Zakharova, Elena Yu. Voskoboeva, Alla N. Semyachkina, Nato D. Vashakmadze, Amina I. Gamzatova, Svetlana V. Mikhailova, Sergey I. Kutsev

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The Mechanisms of Resistance to Tyrosine Kinase Inhibitor Imatinib Therapy of Chronic Myeloid Leukemia por S. I. Kutsev, S. V. Mordanov, A. N. Zeltser, O. S. Oxenjuk, O. A. Ustaeva, T. I. Kungurova, E. V. Burnasheva, E. Grankina, Yu. V. Shatokhin

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Differential diagnosis of juvenile idiopathic arthritis and multiple epiphyseal dysplasia: Experience of multidisciplinary interaction por D. V. Osipova, T. V. Markova, V. M. Kenis, E. V. Melchenko, T. S. Nagornova, I. P. Nikishina, E. Yu. Zakharova, E. L. Dadali, S. I. Kutsev

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Socioeconomic efficiency of neonatal screening for spinal muscular atrophy in the Russian Federation por 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

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An Unusual Presentation of Novel Missense Variant in <i>PAX6</i> Gene: NM_000280.4:c.341A>G, p.(Asn114Ser) por Tatyana A. Vasilyeva, Natella V. Sukhanova, Olga V. Khalanskaya, Andrey V. Marakhonov, Nikolai S. Prokhorov, Vitaly V. Kadyshev, Nikolay A. Skryabin, Sergey I. Kutsev, Rena A. Zinchenko

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Clinical and Genetic Correlations of Inherital Retinal Disease with Mutations in the ABCA4 Gene by Patients of the Russian Population por 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

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Clinical Practice Guidelines for delivery of healthcare to patients with Pompe disease por S. S. Nikitin, S. I. Kutsev, E. N. Basargina, S. V. Mikhaylova, E. Yu. Zakharova, V. I. Larionova, S. I. Polyakova, N. P. Kotlukova, E. N. Arkhipova, M. O. Kovalchuk, N. V. Buchinskaya

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Copy number variation analysis in cytochromes and glutathione S-transferases may predict efficacy of tyrosine kinase inhibitors in chronic myeloid leukemia. por Alexander V Lavrov, Oksana A Ustaeva, Elmira P Adilgereeva, Svetlana A Smirnikhina, Ekaterina Y Chelysheva, Oleg A Shukhov, Yuriy V Shatokhin, Sergey V Mordanov, Anna G Turkina, Sergey I Kutsev

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