Publications
- Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders2021 | First 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
- Brittle cornea syndrome : Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years2020 | First Faculty of Medicine
- Molecular genetic cause of achromatopsia in two patients of Czech origin2019 | First Faculty of Medicine, Central Library of Charles University
- Early Detection of Bilateral Cataracts In Utero May Represent a Manifestation of Severe Congenital Disease2016 | First Faculty of Medicine, Second 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
Loading network view...
