- Cutis laxa and excessive bone growth due to de novo mutations in PTDSS12018 | Second Faculty of Medicine
- Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A22008 | Second Faculty of Medicine
- Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type2008 | Second Faculty of Medicine
- Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa2013 | Second Faculty of Medicine
- Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa2013 | Publication without faculty affiliation
- Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy2013 | Second Faculty of Medicine
- Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome2014 | Second Faculty of Medicine
- Hereditary gelsolin amyloidosis - clinical symptoms and molecular genetic cause2021 | First Faculty of Medicine