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
- Leber hereditary optic neuropathy2017 | First Faculty of Medicine
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | First Faculty of Medicine, Second Faculty of Medicine
- Axenfeld-Rieger syndrome: more than meets the eye2023 | First Faculty of Medicine, Second Faculty of Medicine
- Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy2023 | First Faculty of Medicine, Third Faculty of Medicine
- MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma2023 | First Faculty of Medicine, Second Faculty of Medicine
- Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction2023 | First Faculty of Medicine
- Novel disease-causing variants and phenotypic features of X-linked megalocornea2022 | First Faculty of Medicine, Second Faculty of Medicine
- Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy2022 | First Faculty of Medicine
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