Publications
- Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes2020 | First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
- Stickler syndrome in the Czech Republic: phenotypic variability and genetic heterogeneity2021 | Second Faculty of Medicine
- Immunoactive polysaccharides produced by heterotrophic mutant of green microalga Parachlorella kessleri HY1 (Chlorellaceae)2020 | Central Library of Charles University, Faculty of Science
- SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 12018 | First Faculty of Medicine, Second Faculty of Medicine
- HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 82017 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Clinical findings in family with aniridia due the PAX6 mutation2014 | Central Library of Charles University
- Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy2011 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- High frequency of SH3TC2 mutations in Czech HMSN I patients2011 | Second Faculty of Medicine
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