Zobrazeno 1 - 10
of 63
pro vyhledávání: '"Renata, Gaillyová"'
Autor:
Iva Synková, Markéta Bébarová, Irena Andršová, Larisa Chmelikova, Olga Švecová, Jan Hošek, Michal Pásek, Pavel Vít, Iveta Valášková, Renata Gaillyová, Rostislav Navrátil, Tomáš Novotný
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Abstract The variant c.926C > T (p.T309I) in KCNQ1 gene was identified in 10 putatively unrelated Czech families with long QT syndrome (LQTS). Mutation carriers (24 heterozygous individuals) were more symptomatic compared to their non-affected relati
Externí odkaz:
https://doaj.org/article/78136d3d7b394d9da2840cbe7a5654c8
Autor:
Iva Synková, Markéta Bébarová, Irena Andršová, Larisa Chmelikova, Olga Švecová, Jan Hošek, Michal Pásek, Pavel Vít, Iveta Valášková, Renata Gaillyová, Rostislav Navrátil, Tomáš Novotný
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-3 (2021)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://doaj.org/article/7c77c1c50fb8444f9500e1f8d6f47bde
Autor:
Renata Gaillyová
Publikováno v:
Dermatologie pro praxi. 16:96-100
Autor:
Martina Klincová, Dagmar Štěpánková, Ivana Schröderová, Eva Klabusayová, Edita Ošťádalová, Iveta Valášková, Lenka Fajkusová, Jana Zídková, Renata Gaillyová, Petr Štourač
Publikováno v:
British journal of anaesthesia. 129(2)
Autor:
Ondřej Horák, Martina Burešová, Senad Kolář, Klára Španělová, Barbora Jeřábková, Renata Gaillyová, Katarína Česká, Kamila Réblová, Jana Šoukalová, Jana Zídková, Lenka Fajkusová, Hana Ošlejšková, Ivan Rektor, Pavlína Danhofer
Publikováno v:
Epilepsybehavior : EB. 128
The primary goal was to determine the yield of next-generation sequencing (NGS) epilepsy gene panels used for epilepsy etiology diagnosing using a multidisciplinary approach and to demonstrate the importance of genotype-phenotype correlations. The se
Autor:
Petr Broz, Marketa Wayhelova, Klara Drabova, Dominika Loubalova, Vladimíra Vallová, Renata Gaillyová, Jan Smetana, Hana Filková, Petr Kuglík, Aneta Mikulasova
Publikováno v:
Journal of human genetics. 67(4)
Pathogenic sequence variant in the GNAI1 gene were recently introduced as a cause of novel syndrome with a manifestation of variable developmental delay and autistic features. In our study, we report a case of monozygotic twins with severe intellectu
Autor:
Michal Pásek, Iva Synková, Larisa Chmelikova, Rostislav Navrátil, Renata Gaillyová, Irena Andršová, Olga Švecová, Pavel Vít, Iveta Valášková, Jan Hošek, Markéta Bébarová, Tomáš Novotný
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-3 (2021)
Scientific Reports
Scientific Reports
The variant c.926C T (p.T309I) in KCNQ1 gene was identified in 10 putatively unrelated Czech families with long QT syndrome (LQTS). Mutation carriers (24 heterozygous individuals) were more symptomatic compared to their non-affected relatives (17 ind
Autor:
Marcela Vilémová, Jan Oppelt, Vladimíra Vallová, Hana Polackova, Michal Ryzí, Petr Kuglík, Lenka Krskova, Eva Hladílková, Renata Gaillyová, Marketa Wayhelova
Publikováno v:
Neurogenetics. 21(4)
Pathogenic sequence variants in the IQ motif– and Sec7 domain–containing protein 2 (IQSEC2) gene have been confirmed as causative in the aetiopathogenesis of neurodevelopmental disorders (intellectual disability, autism) and epilepsy. We report o
Publikováno v:
Journal of Cystic Fibrosis. 19:S15-S16
Autor:
Marketa Wayhelova, Petr Kuglík, Renata Gaillyová, Jan Smetana, Eva Hladílková, Vladimíra Vallová, Marta Hanáková, Marcela Vilémová, Petra Nikolova, Barbora Gromesova, Hana Filková
Publikováno v:
BMC Medical Genomics
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-11 (2019)
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-11 (2019)
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, we perform