Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Danuta Sielska-Rotblum"'
Autor:
Aleksandra Jezela-Stanek, Andrzej Kochański, Małgorzata Krajewska-Walasek, Danuta Sielska-Rotblum, Monika Kugaudo, Anna Gutkowska, Marzena Kucharczyk
Publikováno v:
American Journal of Medical Genetics Part A. 164:2541-2550
We report on a patient with severe psychomotor disability, numerous dysmorphic features, and congenital malformations resulting from a complex genomic rearrangement on 16q24.1-q24.3 involving a de novo duplication-triplication pattern. To the best of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1d46f26933bc67a1eaa11100214f567
https://doi.org/10.1002/ajmg.a.36686
https://doi.org/10.1002/ajmg.a.36686
Autor:
Michał Milewski, Jolanta Czekajska, Sylwia Rzonca, Aleksandra Landowska, Tadeusz Mazurczak, Anna Abramowicz, D Maciejko, Jerzy Bal, Monika Gos, Ewa Obersztyn, Daniel Szopa, Danuta Sielska-Rotblum, Agnieszka Szpecht-Potocka
Publikováno v:
Genes; Volume 7; Issue 9; Pages: 59
Genes, Vol 7, Iss 9, p 59 (2016)
Genes
Genes, Vol 7, Iss 9, p 59 (2016)
Genes
The article summarizes over 20 years of experience of a reference lab in fragile X mental retardation 1 gene (FMR1) molecular analysis in the molecular diagnosis of fragile X spectrum disorders. This includes fragile X syndrome (FXS), fragile X-assoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6a19f66e0ee00090db5a1c41907366f
Autor:
Danuta Sielska-Rotblum, Monika Gos, Michał Milewski, Sylwia Rzońca - Niewczas, Aleksandra Landowska, Jerzy Bal
Publikováno v:
National Information Processing Institute
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::24835ced0724f7c410b2059ce54ea014
https://books.google.pl/books/about/Zesp%C3%B3%C5%82_%C5%82amliwego_chromosomu_X.html?id=UiBizgEACAAJ&redir_esc=y
https://books.google.pl/books/about/Zesp%C3%B3%C5%82_%C5%82amliwego_chromosomu_X.html?id=UiBizgEACAAJ&redir_esc=y
