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 by S. I. Kutsev

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

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The use of specialized products of children’s dietary medical nutrition for children with organic aciduria (acidemia) by 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 by D. V. Vlodavets, O. A. Shchagina, A. V. Polyakov, S. I. Kutsev

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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

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

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

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Current Approaches to the Treatment of Hunter Syndrome by 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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Differential diagnosis of juvenile idiopathic arthritis and multiple epiphyseal dysplasia: Experience of multidisciplinary interaction by 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 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

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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

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Clinical Practice Guidelines for delivery of healthcare to patients with Pompe disease by 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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Patients with Papillary Renal Cancer and Germline Duplication of <i>MET</i> Exons 5-21 by Dmitry S. Mikhaylenko, Natalya B. Kuryakova, Fatima M. Bostanova, Viktoria V. Zabnenkova, Oksana P. Ryzhkova, Ilya V. Volodin, Dmitry V. Zaletaev, Dmitry V. Pustoshilov, Sergey I. Kutsev, Vladimir V. Strelnikov

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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. by 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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Expanding the spectrum of clinical and genetic characteristics of distal arthrogryposis type 5 caused by heterozygous variants in the PIEZO2 gene by E. L. Dadali, T. V. Markova, E. A. Melnik, S. S. Nikitin, I. V. Sharkova, O. V. Khalanskaya, L. A. Bessonov, E. A. Shestopalova, O. P. Ryzhkova, S. I. Trofimova, O. E. Agranovich, S. I. Kutsev

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BH4-deficient hyperphenylalaninemia in Russia. by Polina Gundorova, Irina A Kuznetcova, Galina V Baydakova, Anna A Stepanova, Yulia S Itkis, Victoria S Kakaulina, Irina P Alferova, Lidya V Lyazina, Lilya P Andreeva, Ilya Kanivets, Ekaterina Y Zakharova, Sergey I Kutsev, Aleksander V Polyakov

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VEXAS syndrome: on the threshold of changing perceptions of known diseases by B. D. Chaltsev, A. V. Torgashina, A. M. Lila, T. V. Markova, S. I. Kutsev, O. P. Ryzhkova, A. A. Orlova, A. V. Kokhno, T. I. Solovyova, V. N. Dvirnyk, A. M. Kovrigina, T. N. Obukhova, E. N. Parovichnikova, E. L. Nasonov

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Accumulation of Circulating Cell-Free CpG-Enriched Ribosomal DNA Fragments on the Background of High Endonuclease Activity of Blood Plasma in Schizophrenic Patients by E. S. Ershova, E. M. Jestkova, A. V. Martynov, G. V. Shmarina, P. E. Umriukhin, L. V. Bravve, N. V. Zakharova, G. P. Kostyuk, D. V. Saveliev, M. D. Orlova, M. Bogush, S. I. Kutsev, N. N. Veiko, S. V. Kostyuk

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The comparative analysis of BCR-ABL/ABL detection by real-time quantitative PCR and automated GeneXpert Dx System in chronic myeloid leukemia patients with major and complete molec... by S. A. Smirnikhina, G. A. Tsaur, E. Yu. Chelysheva, Yu. A. Yakovleva, A. V. Lavrov, A. O. Аbdullaev, N. V. Bederak, O. A. Shukhov, A. G. Solodovnikov, A. M. Popov, E. P. Adilgereeva, L. G. Fechina, A. G. Turkina, S. I. Kutsev

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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 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

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