Gabriela Štorkánová

Genotype–phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type<scp>II</scp>

Lenka Dvořáková, Hana Vlášková, Adrijan Sarajlija et al. · Clinical Genetics · 2016 · 35 citations

Life Sciences, Genetics, Human Genetics +15

X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female

Martin Řeboun, Jitka Rybová, Robert Dobrovolný et al. · Folia Biologica · 2016 · 26 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Eight novel<i>ABCD1</i>gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange

Lenka Dvořáková, Gabriela Štorkánová, G. Unterrainer et al. · Human Mutation · 2001 · 23 citations

Life Sciences, Genetics, Molecular Genetics +16

Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency

Ondřej Lukšan, M Jirsa, Jitka Eberová et al. · Human Mutation · 2010 · 18 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Identification of novel informative loci for DNA-based X-inactivation analysis

Dita Mušálková, Jakub Minks, Gabriela Štorkánová et al. · Blood Cells Molecules and Diseases · 2014 · 15 citations

Medicine, Genetics, Molecular Genetics +3