Publikace
- Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant2020 | 1. lékařská fakulta, 2. lékařská fakulta
- Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications2020 | 1. lékařská fakulta, 2. lékařská fakulta
- Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years2020 | 1. lékařská fakulta
- Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants2020 | 1. lékařská fakulta
- IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing2019 | 1. lékařská fakulta
- OPA1 analysis in an international series of probands with bilateral optic atrophy2017 | 1. lékařská fakulta
- Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 32016 | 1. lékařská fakulta, 2. lékařská fakulta
- Early Detection of Bilateral Cataracts In Utero May Represent a Manifestation of Severe Congenital Disease2016 | 1. lékařská fakulta, 2. lékařská fakulta
- Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants2016 | 1. lékařská fakulta
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | 1. lékařská fakulta, 2. lékařská fakulta
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