Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay

por Wayhelova, Marketa, Oppelt, Jan, Smetana, Jan, Hladilkova, Eva, Filkova, Hana, Makaturova, Eva, Nikolova, Petra, Beharka, Rastislav, Gaillyova, Renata, Kuglik, Petr
Publicado 2019

Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype

por Smetana, Jan, Vallova, Vladimira, Wayhelova, Marketa, Hladilkova, Eva, Filkova, Hana, Horinova, Vera, Broz, Petr, Mikulasova, Aneta, Gaillyova, Renata, Kuglík, Petr
Publicado 2021

A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio‑based exome sequencing: A case report

por Wayhelova, Marketa, Vallova, Vladimira, Broz, Petr, Mikulasova, Aneta, Machackova, Dominika, Filkova, Hana Dynkova, Smetana, Jan, Takacsova, Alena, Gaillyova, Renata, Kuglik, Petr
Publicado 2023

The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay

por Wayhelova, Marketa, Smetana, Jan, Vallova, Vladimira, Hladilkova, Eva, Filkova, Hana, Hanakova, Marta, Vilemova, Marcela, Nikolova, Petra, Gromesova, Barbora, Gaillyova, Renata, Kuglik, Petr
Publicado 2019

Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation

por Synková, Iva, Bébarová, Markéta, Andršová, Irena, Chmelikova, Larisa, Švecová, Olga, Hošek, Jan, Pásek, Michal, Vít, Pavel, Valášková, Iveta, Gaillyová, Renata, Navrátil, Rostislav, Novotný, Tomáš
Publicado 2021

Author Correction: Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation

por Synková, Iva, Bébarová, Markéta, Andršová, Irena, Chmelikova, Larisa, Švecová, Olga, Hošek, Jan, Pásek, Michal, Vít, Pavel, Valášková, Iveta, Gaillyová, Renata, Navrátil, Rostislav, Novotný, Tomáš
Publicado 2021

Dystrophin Deficiency Leads to Genomic Instability in Human Pluripotent Stem Cells via NO Synthase-Induced Oxidative Stress

por Jelinkova, Sarka, Fojtik, Petr, Kohutova, Aneta, Vilotic, Aleksandra, Marková, Lenka, Pesl, Martin, Jurakova, Tereza, Kruta, Miriama, Vrbsky, Jan, Gaillyova, Renata, Valášková, Iveta, Frák, Ivan, Lacampagne, Alain, Forte, Giancarlo, Dvorak, Petr, Meli, Albano C., Rotrekl, Vladimir
Publicado 2019