Publikace
- Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant2020 | 1. lékařská fakulta, 2. lékařská fakulta
- A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract2020 | 1. lékařská fakulta
- Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants2020 | 1. lékařská fakulta
- Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56*) CRYGD variant in a family with dominantly inherited congenital cataracts2017 | 1. lékařská fakulta
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | 1. lékařská fakulta, 2. lékařská fakulta
- Axenfeld-Rieger syndrome: more than meets the eye2023 | 1. lékařská fakulta, 2. lékařská fakulta
- Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy2023 | 1. lékařská fakulta, 3. lékařská fakulta
- MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma2023 | 1. lékařská fakulta, 2. lékařská fakulta
- Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction2023 | 1. lékařská fakulta
- Novel disease-causing variants and phenotypic features of X-linked megalocornea2022 | 1. lékařská fakulta, 2. lékařská fakulta
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