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Pharmacogenomics|June 15, 2016
Rare variants in known and novel candidate genes predisposing to statin-associated myopathyMagdaléna Neřoldová, Viktor Stránecký, Kateřina Hodaňová, et al.
Molecular Genetics & Genomic Medicine|April 28, 2020
Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testingIvana Jedličková, Anna Přistoupilová, Lenka Nosková, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|April 4, 2007
Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pumpMartin Hrebícek, Tomás Jirásek, Hana Hartmannová, et al.
Biochimica Et Biophysica Acta|October 13, 2010
Expression and processing of the TMEM70 proteinKateřina Hejzlarová, Markéta Tesařová, Alena Vrbacká-Čížková, et al.
Journal of the Neurological Sciences|February 19, 2013
Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a cathepsin D variant p.A58VRainer Ehling, Lenka Nosková, Viktor Stránecký, et al.
Rheumatology (Oxford, England)|November 14, 2018
Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in femalesMarie Zikánová, Dawn Wahezi, Arielle Hay, et al.
European Journal of Human Genetics : EJHG|January 11, 2020
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencingIvana Jedličková, Maxime Cadieux-Dion, Anna Přistoupilová, et al.
Cell Metabolism|July 29, 2014
Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylationEon Joo Park, Kariona A Grabińska, Ziqiang Guan, et al.
BMC Genomics|January 29, 2008
Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiencyAlena Cízková, Viktor Stránecký, Robert Ivánek, et al.
Genes, Brain, and Behavior|February 15, 2024
Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorderDita Mušálková, Anna Přistoupilová, Ivana Jedličková, et al.
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