Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Eugeny K. Ginter"'
Autor:
Rena A. Zinchenko, Eugeny K. Ginter, Andrey V. Marakhonov, Nika V. Petrova, Vitaly V. Kadyshev, Tatyana P. Vasilyeva, Oksana U. Alexandrova, Alexander V. Polyakov, Sergey I. Kutsev
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Externí odkaz:
https://doaj.org/article/f35352adcdd3428abd0afb9381b7c5e9
Autor:
Rena A. Zinchenko, Eugeny K. Ginter, Andrey V. Marakhonov, Nika V. Petrova, Vitaly V. Kadyshev, Tatyana P. Vasilyeva, Oksana U. Alexandrova, Alexander V. Polyakov, Sergey I. Kutsev
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
The issue of point prevalence, cumulative prevalence (CP), and burden of rare hereditary diseases (RHD), comprising 72–80% of the group of rare diseases, is discussed in many reports and is an urgent problem, which is associated with the rapid prog
Externí odkaz:
https://doaj.org/article/fa87baa7f13345308388fa402400e9bb
Autor:
Nika V, Petrova, Nataliya Y, Kashirskaya, Tatyana A, Vasilyeva, Elena I, Kondratyeva, Elena K, Zhekaite, Anna Y, Voronkova, Victoria D, Sherman, Varvara A, Galkina, Eugeny K, Ginter, Sergey I, Kutsev, Andrey V, Marakhonov, Rena A, Zinchenko
Publikováno v:
Genes
The distribution and frequency of the CFTR gene mutations vary considerably between countries and ethnic groups. Russians are an East Slavic ethnic groups are native to Eastern Europe. Russians, the most numerous people of the Russian Federation (RF)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0c0c714598bdc612fd4ab226b2d1e328
https://pubmed.ncbi.nlm.nih.gov/32429104
https://pubmed.ncbi.nlm.nih.gov/32429104
Autor:
Alexander V. Polyakov, Amin Kh. Makaov, V. V. Kadyshev, Rena A. Zinchenko, N. E. Petrina, Nika V. Petrova, G. I. El’chinova, Elena L. Dadali, Eugeny K. Ginter, Polina Gundorova, Tatyana A. Vasilyeva, Andrey V. Marakhonov, L. K. Mikhailova, Oksana Y. Alexandrova, Sergey I. Kutsev, V. A. Galkina
Publikováno v:
International Journal of Molecular Sciences
Volume 21
Issue 1
International Journal of Molecular Sciences, Vol 21, Iss 1, p 325 (2020)
Volume 21
Issue 1
International Journal of Molecular Sciences, Vol 21, Iss 1, p 325 (2020)
Prevalence and allelic heterogeneity of hereditary diseases (HDs) could vary significantly in different human populations. Current knowledge of HDs distribution in populations is generally limited to either European data or analyses of isolated popul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c1453d4d5e4e46ed1184f482bf9aea4
Autor:
Elena Kondratyeva, Anna Voronkova, Sergey I. Kutsev, Andrey V. Marakhonov, Victoria Sherman, Rena A. Zinchenko, Tatyana A. Vasilyeva, Elena Zhekaite, Nataliya Kashirskaya, V. A. Galkina, Nika V. Petrova, Eugeny K. Ginter
Publikováno v:
Genes
Volume 11
Issue 5
Genes, Vol 11, Iss 554, p 554 (2020)
Volume 11
Issue 5
Genes, Vol 11, Iss 554, p 554 (2020)
The distribution and frequency of the CFTR gene mutations vary considerably between countries and ethnic groups. Russians are an East Slavic ethnic groups are native to Eastern Europe. Russians, the most numerous people of the Russian Federation (RF)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87c42a0dbd514599e51666e529b0ce9f
https://doi.org/10.3390/genes11050554
https://doi.org/10.3390/genes11050554
Autor:
Peter St George-Hyslop, Alexander N. Petrin, Lindsay A. Farrer, Shirine Turaeva, G. I. Korovaitseva, Sergey A. Keryanov, Eugeny K. Ginter, Ekaterina Rogaeva, Evgeny I. Rogaev, Ilya Chumakov
Publikováno v:
Human Molecular Genetics. 5:699-703
Cataract is one of the major causes of blindness in humans. We describe here an autosomal dominant polymorphic congenital cataract (PCC) which is characterised by wide variations in phenotype of non-nuclear lens opacities, even among affected members
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d580a39b9e67731a63d5a5b58dfd4d73
https://doi.org/10.1093/hmg/5.5.699
https://doi.org/10.1093/hmg/5.5.699