Publications
- Clinical Findings in Members of a Czech Family with Retinitis Pigmentosa Caused by the c.2426_2427delAG Mutation in RPGR2013 | First Faculty of Medicine, Faculty of Medicine in Hradec Králové, Faculty of Physical Education and Sport
- Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder2013 | First Faculty of Medicine
- Molecular genetic cause of X-linked retinitis pigmentosa in a Czech family2011 | 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
- Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN12024 | First Faculty of Medicine
- Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease2023 | First Faculty of Medicine, Third Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
- 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
- Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes +12023 | First Faculty of Medicine, Faculty of Science
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