Publikace
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations2020 | 1. lékařská fakulta
- 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 Female2016 | 1. lékařská fakulta
- Identification of novel informative loci for DNA-based X-inactivation analysis2015 | 1. lékařská fakulta
- Pitfalls of X-chromosome inactivation testing in females with Fabry disease2022 | 1. lékařská fakulta
- Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II2017 | 1. lékařská fakulta
- Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis2016 | 1. lékařská fakulta
- Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families2013 | 1. lékařská fakulta
- Porucha interakce promotoru a enhanceru v genu OTC u pacientky se symptomy deficitu ornithinkarbamoyltransferasy2010 | 1. lékařská fakulta
- Eight novel ABCD1 gene mutations and three polymorphisms in patient with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange2001 | 1. lékařská fakulta
- Mutation analysis in Czech and Slovak patients with mucopolysacharidosis type II: Six novel mutations in IDS genePublikace bez příslušnosti k fakultě
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