Publications
- Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK2022 | Second Faculty of Medicine
- Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes2020 | Central Library of Charles University, Second Faculty of Medicine, First Faculty of Medicine
- SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 12018 | Second Faculty of Medicine, First Faculty of Medicine
- Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype2018 | Second Faculty of Medicine
- Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring2016 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Medicine in Hradec Králové
- Polymorphisms at PRSS1-PRSS2 and CLDN2-MORC4 loci associate with alcoholic and non-alcoholic chronic pancreatitis in a European replication study2015 | Second Faculty of Medicine
- Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA2012 | Central Library of Charles University, Second Faculty of Medicine, Third Faculty of Medicine
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