Publications
- 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
- The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis2019 | First Faculty of Medicine, Third Faculty of Medicine
- Molecular genetic cause of achromatopsia in two patients of Czech origin2019 | First Faculty of Medicine, Central Library of Charles University
- Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 32019 | First Faculty of Medicine
- Paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS): clinical findings in twelve patients including recurrence after keratoplasty2019 | First Faculty of Medicine
- 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
- Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene2018 | First Faculty of Medicine, Second Faculty of Medicine
- OPA1 analysis in an international series of probands with bilateral optic atrophy2017 | First Faculty of Medicine
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