Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Hana Filkova"'
Autor:
Jan Smetana, Vladimira Vallova, Marketa Wayhelova, Eva Hladilkova, Hana Filkova, Vera Horinova, Petr Broz, Aneta Mikulasova, Renata Gaillyova, Petr Kuglík
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Alport syndrome with intellectual disability (ATS-ID, AMME complex; OMIM #300194) is an X-linked contiguous gene deletion syndrome associated with an Xq22.3 locus mainly characterized by hematuria, renal failure, hearing loss/deafness, neurodevelopme
Externí odkaz:
https://doaj.org/article/553c39dc21554bb8bf291f2161880eb2
Autor:
Marketa Wayhelova, Jan Smetana, Vladimira Vallova, Eva Hladilkova, Hana Filkova, Marta Hanakova, Marcela Vilemova, Petra Nikolova, Barbora Gromesova, Renata Gaillyova, Petr Kuglik
Publikováno v:
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-11 (2019)
Abstract Background Chromosomal microarray analysis has been shown to be a valuable and cost effective assay for elucidating copy number variants (CNVs) in children with intellectual disability and developmental delay (ID/DD). Methods In our study, w
Externí odkaz:
https://doaj.org/article/42c14baaa91d4bca8a0a64c3d64959f7
Autor:
Marketa Wayhelova, Vladimira Vallova, Petr Broz, Aneta Mikulasova, Dominika Machackova, Hana Filkova, Jan Smetana, Alena Takacsova, Renata Gaillyova, Petr Kuglik
Publikováno v:
Molecular Medicine Reports. 27