Publications
- Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles2021 | First Faculty of Medicine
- Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants2020 | First Faculty of Medicine
- Analysis of KERA in four families with cornea plana identifies two novel mutations2018 | First Faculty of Medicine
- Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants2016 | First Faculty of Medicine
- Detailed Assessment of Renal Function in a Proband with Harboyan Syndrome Caused by a Novel Homozygous SLC4A11 Nonsense Mutation2015 | 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
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