Publikace
- A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus2021 | 1. 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
- Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity2018 | 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
- Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy2022 | 1. lékařská fakulta
Loading network view...