Publikace
- Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype2018 | 2. lékařská fakulta
- Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK2022 | 2. lékařská fakulta
- Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes2020 | Ústřední knihovna, 2. lékařská fakulta, 1. lékařská fakulta
- SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 12018 | 2. lékařská fakulta, 1. lékařská fakulta
- Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring2016 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu, Lékařská fakulta v Hradci Králové
- Polymorphisms at PRSS1-PRSS2 and CLDN2-MORC4 loci associate with alcoholic and non-alcoholic chronic pancreatitis in a European replication study2015 | 2. lékařská fakulta
- Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA2012 | Ústřední knihovna, 2. lékařská fakulta, 3. lékařská fakulta
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