Publications
- Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder2013 | First Faculty of Medicine
- Further Genetic and Clinical Insights of Posterior Polymorphous Corneal Dystrophy 32013 | First Faculty of Medicine
- High Prevalence of Posterior Polymorphous Corneal Dystrophy in the Czech Republic; Linkage Disequilibrium Mapping and Dating an Ancestral Mutation2012 | First Faculty of Medicine
- Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation2008 | First Faculty of Medicine
- Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation2007 | 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
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