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

Get full text

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

Get full text

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

Get full text

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

Chromosome Instability, Aging and Brain Diseases by Ivan Y. Iourov, Yuri B. Yurov, Svetlana G. Vorsanova, Sergei I. Kutsev

Get full text

Relative Frequencies of <i>PAX6</i> Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World’s Population and the Human Genome by Tatyana A. Vasilyeva, Andrey V. Marakhonov, Sergey I. Kutsev, Rena A. Zinchenko

Get full text

Somatic mosaicism in the diseased brain by Ivan Y. Iourov, Svetlana G. Vorsanova, Oxana S. Kurinnaia, Sergei I. Kutsev, Yuri B. Yurov

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

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

Get full text

Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia. by Polina Gundorova, Anna A Stepanova, Irina A Kuznetsova, Sergey I Kutsev, Aleksander V Polyakov

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

Preferentially Paternal Origin of De Novo 11p13 Chromosome Deletions Revealed in Patients with Congenital Aniridia and WAGR Syndrome by Tatyana A. Vasilyeva, Andrey V. Marakhonov, Natella V. Sukhanova, Sergey I. Kutsev, Rena A. Zinchenko

Get full text

Molekulyarnyy monitoringeffektivnosti terapii bol'nykhkhronicheskim mieloleykozom v Rossii(po materialam Vserossiyskoy nauchno-prakticheskoykonferentsii, Irkutsk, 3-4 sentyabrya 20... by M V Dubina, D A Kuevda, T E Khomyakova, G A Tsaur, S I Kutsev, A Yu Zaritskiy

Get full text

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

Get full text

Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation by Kristina Mikhalchuk, Olga Shchagina, Alena Chukhrova, Viktoria Zabnenkova, Polina Chausova, Nina Ryadninskaya, Dmitry Vlodavets, Sergei I. Kutsev, Alexander Polyakov

Get full text

The Cytogenomic “Theory of Everything”: Chromohelkosis May Underlie Chromosomal Instability and Mosaicism in Disease and Aging by Ivan Y. Iourov, Svetlana G. Vorsanova, Yuri B. Yurov, Maria A. Zelenova, Oxana S. Kurinnaia, Kirill S. Vasin, Sergei I. Kutsev

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

Genetic Variant c.245A>G (p.Asn82Ser) in <i>GIPC3</i> Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population by Nika V. Petrova, Andrey V. Marakhonov, Natalia V. Balinova, Anna V. Abrukova, Fedor A. Konovalov, Sergey I. Kutsev, Rena A. Zinchenko

Get full text

INFLUENCE OF NEONATAL SCREENING FOR CYSTIC FIBROSIS BY THE EXAMPLE OF PATIENTS OF THE MOSCOW REGION by V. D. Sherman, E. I. Kondratieva, A. Y. Voronkova, N. Y. Kashirskaya, L. A. Shabalova, V. S. Nikonova, E. K. Zhekaite, S. I. Kutsev

Get full text