Publikace
- Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization2018 | 1. lékařská fakulta, 2. lékařská fakulta, 3. lékařská fakulta
- SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 12018 | 1. lékařská fakulta, 2. lékařská fakulta
- Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene2018 | 1. lékařská fakulta, 2. 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
- Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy2022 | 1. lékařská fakulta
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