Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Ekaterina M. Galanina"'
Autor:
Irina S. Kolesnikova, Alexander A. Dolskiy, Natalya A. Lemskaya, Yulia V. Maksimova, Asia R. Shorina, Alexander S. Graphodatsky, Ekaterina M. Galanina, Dmitry V. Yudkin
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 19, Iss 2, Pp 129-134 (2018)
Background: Intellectual disability (ID) is an important medical and social problem that can be caused by different genetic and environmental factors. One such factor could be rDNA amplification and changes in rRNA expression and maturation. Aim of t
Externí odkaz:
https://doaj.org/article/557cdafe7f8543cf86336ae82fec51d1
Autor:
Natalya A. Lemskaya, Ekaterina M. Galanina, Irina S. Kolesnikova, Yulia V. Maksimova, Dmitry V. Yudkin, Asia R. Shorina, Alexander S. Graphodatsky, Alexander A. Dolskiy
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 19, Iss 2, Pp 129-134 (2018)
Egyptian Journal of Medical Human Genetics; Vol 19, No 2 (2018); 129-134
Egyptian Journal of Medical Human Genetics; Vol 19, No 2 (2018); 129-134
Background: Intellectual disability (ID) is an important medical and social problem that can be caused by different genetic and environmental factors. One such factor could be rDNA amplification and changes in rRNA expression and maturation. Aim of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed93b6cdbd1e8e0fb944beaea1b9305a
https://doi.org/10.1016/j.ejmhg.2017.08.010
https://doi.org/10.1016/j.ejmhg.2017.08.010
Autor:
Asia R. Shorina, Irina G. Sergeeva, Irina V. Grishchenko, Dmitry V. Yudkin, Ekaterina M. Galanina, Natalya A. Lemskaya, Yuliya V. Maksimova, Evgeniya R. Isanova, Aleksandra M. Korostyshevskaya, Andrey A. Savelov, Andrey Tulupov
In this report, we describe a molecular cytogenetic study of a family burdened with intellectual disability (ID) and suicide. Our study revealed that the mother has a heterozygous premutation in the FMR1 gene and supernumerary X chromosomes as well a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07553fa688c199ca02dfd7a34d183fa0
https://europepmc.org/articles/PMC5465704/
https://europepmc.org/articles/PMC5465704/
