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| Vol 22, No 12 (2023) |
Correction to the article Ethical aspects of whole-genome noninvasive prenatal testing, published in the journal Medical Genetics. 2023; 22(11): 3-12 |
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article Editorial |
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| Vol 14, No 2 (2015) |
THE VII CONGRESS OF THE RUSSIAN SOCIETY OF MEDICAL GENETICISTS, ST.PETERSBURG, MAY 19—23, 2015 THE 3-RD RUSSIAN CONFERENCE WITH INTERNATIONAL PARTICIPATION «THE GENETICS OF BLOOD SYSTEM TUMORS» ST.PETERSBURG, MAY 19—20, 2015 |
Abstract
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article Editorial |
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| Vol 14, No 3 (2015) |
THE VII CONGRESS OF THE RUSSIAN SOCIETY OF MEDICAL GENETICISTS, ST.PETERSBURG, MAY 19—23, 2015 THE 3-RD RUSSIAN CONFERENCE WITH INTERNATIONAL PARTICIPATION «THE GENETICS OF BLOOD SYSTEM TUMORS» ST.PETERSBURG, MAY 19—20, 2015 |
Abstract
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article Editorial |
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| Vol 14, No 4 (2015) |
THE VII CONGRESS OF THE RUSSIAN SOCIETY OF MEDICAL GENETICISTS, ST.PETERSBURG, MAY 19—23, 2015 THE 3-RD RUSSIAN CONFERENCE WITH INTERNATIONAL PARTICIPATION «THE GENETICS OF BLOOD SYSTEM TUMORS» ST.PETERSBURG, MAY 19—20, 2015 |
Abstract
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article Editorial |
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| Vol 14, No 4 (2015) |
THE RUSSIAN SCIENTIFIC-PRACTICAL CONFERENCE «PRENATAL DIAGNOSTICS OF HEREDITARY AND CONGENITAL DISEASES: PRESENT AND FUTURE» ST.PETERSBURG, MAY 22—23, 2015 |
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article Editorial |
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| Vol 15, No 8 (2016) |
Mutation spectrum in MYBPC3 gene in patients with hypertrophic cardiomyopathy |
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M. E. Polyak, A. B. Khovalyg, A. A. Bukaeva, S. L. Dzemeshkevich, E. V. Zaklyazminskaya |
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| Vol 15, No 8 (2016) |
Hereditary diffuse leukoencephalopathy with spheroids (HDLS): first Russian case diagnosed by targeted NGS |
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G. E. Rudenskaya, Yu. S. Itkus, E. M. Kashina, E. Yu. Zakharova |
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| Vol 15, No 8 (2016) |
Case report of late diagnosis of Emery-Dreifuss muscular dystrophy associated with mutation in the LMNA gene |
Abstract
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L. N. Sivitskaya, T. G. Vaikhanskaya, N. G. Danilenko, T. V. Kurushka, O. G. Davydenko |
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| Vol 15, No 8 (2016) |
Optimization of transfection for CFTE29o- cell culture to develop editing of F508del mutation in CFTR gene |
Abstract
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S. A. Smirnikhina, A. V. Bannikov, A. V. Lavrov |
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| Vol 15, No 8 (2016) |
The LEOPARD syndrome. Тhe case of a rare hereditary disease in the practice of physician-geneticist |
Abstract
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L. A. Khlevnaya, T. V. Lisenko, N. V. Mazurik |
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| Vol 15, No 8 (2016) |
Familial Williams-Beuren syndrome in three generations |
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O. M. Khurs, N. V. Rumiantseva, V. D. Kulak, I. V. Naumchik, O. L. Zobikova, O. A. Gromyko |
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| Vol 15, No 8 (2016) |
STAT4 and CTLA4 genes polymorphism in Belarusian population in view of predisposition to juvenile idiopathic arthritis
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Abstract
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A. A. Yatskiv, N. V. Nikitchenko, A. M. Chichko, A. V. Sukalo, R. I. Goncharova |
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| Vol 16, No 5 (2017) |
Обращение главного редактора |
Abstract
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Editorial Article |
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| Vol 16, No 12 (2017) |
Editorial |
Details
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Editorial Article |
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| Vol 17, No 6 (2018) |
Epigenetics of osteoporosis |
Abstract
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B. I. Yalaev, R. I. Khusainova |
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| Vol 15, No 8 (2016) |
The load of diversity of hereditary diseases in the Republic of Buryatia |
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E. R. Eremina, L. P. Nazarenko, O. A. Salyukova |
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| Vol 17, No 6 (2018) |
About an International System for Human Cytogenomic Nomenclature - ISCN 2016 |
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V. G. Antonenko, N. V. Shilova |
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| Vol 15, No 8 (2016) |
Molecular epidemiology of hereditary disease in ten populations of Karachay-Cherkess Republic |
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A. Kh. Makaov, R. A. Zinchenko, O. V. Khlebnikova, L. K. Mikhailova, N. A. Petrova, P. . Gundorova, N. E. Petrina, T. A. Vasilyeva, A. V. Marakhonov, T. A. Adyan, A. V. Polyakov, E. K. Ginter |
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| Vol 21, No 1 (2022) |
Hereditary diseases and carrier’s screening programs in genetically isolated populations |
Abstract
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M. T. Savvina, N. R. Maksimova, A. L. Sukhomyasova, I. N. Lebedev |
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| Vol 15, No 8 (2016) |
Tuberous sclerosis case in Karachay-Cherkess Republic |
Abstract
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A. V. Marakhonov, A. Kh. Makaov, T. A. Vasilyeva, E. L. Dadali, E. E. Timkovskaya, R. A. Zinchenko |
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| Vol 21, No 1 (2022) |
Interleukin-6: it’s role in the organism, genetic polymorphism and significance in certain diseases (literature review) |
Abstract
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R. P. Tiis, L. P. Osipova |
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| Vol 15, No 8 (2016) |
Results of the use of the new medical technology to determine microdeletions 22q11.2 by microsatellite analysis on patients with velo-cardio-facial syndrome / DiGeorge syndrome |
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M. V. Nemtsova, V. V. Strelnikov, E. B. Kuznetsova, V. V. Rudenko, S. A. Kazakova, D. V. Zaletaev |
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| Vol 21, No 3 (2022) |
Register of patients with phenylketonuria and other types of hyperphenylalaninemia in the Russian Federation: 2021 |
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E. A. Shestopalova, Kh. F. Aksyanova, I. P. Alferova, M. A. Amelina, L. P. Andreeva, Z. I. Vafina, S. V. Voronin, T. A. Golikina, T. Yu. Elizarieva, L. N. Kolbasin, S. E. Kostritsov, O. V. Kruglova, V. I. Kurilova, L. V. Lyazina, T. V. Lukyanova, A. K. Mardanova, N. V. Nikitina, A. M. Nikonov, A. V. Polyakov, I. V. Potapova, E. S. Tyumentseva, T. V. Fedotova, E. E. Shipovskova, S. I. Kutsev |
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| Vol 15, No 8 (2016) |
Identification of a COL1А2 deletion in exon 50 in a 2nd trimester fetus with osteogenesis imperfecta type 2 |
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I. V. Novikova, N. A. Venchikova, I. V. Solovyeva, A. A. Gusina |
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| Vol 15, No 8 (2016) |
Rapid prenatal diagnostics of the most frequent numerical abnormalities of human chromosomes using quantitative fluorescent PCR analysis in Belarus |
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T. V. Asadchuk, L. A. Savenko, I. V. Novikova |
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