Publications
- Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders2021 | First Faculty of Medicine
- Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant2020 | First Faculty of Medicine, Second Faculty of Medicine
- Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications2020 | First Faculty of Medicine, Second Faculty of Medicine
- Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years2020 | First Faculty of Medicine
- CUGC for posterior polymorphous corneal dystrophy (PPCD)2020 | First Faculty of Medicine
- A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract2020 | First Faculty of Medicine
- Brittle cornea syndrome : Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years2020 | First Faculty of Medicine
- The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis2019 | First Faculty of Medicine, Third Faculty of Medicine
- Congenital fibrosis of the extraocular muscles in a Czech family and its molecular genetic cause2019 | First Faculty of Medicine, Second Faculty of Medicine
- Molecular genetic cause of achromatopsia in two patients of Czech origin2019 | First Faculty of Medicine, Central Library of Charles University
Loading network view...