Publikace
- A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus2021 | 1. lékařská fakulta
- Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders2021 | 1. 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
- Paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS): clinical findings in twelve patients including recurrence after keratoplasty2019 | 1. lékařská fakulta
- Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 42018 | 1. lékařská fakulta, 3. lékařská fakulta
- Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene2018 | 1. lékařská fakulta, 2. lékařská fakulta
- Replication of SNP associations with keratoconus in a Czech cohort2017 | 1. lékařská fakulta, 2. 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
- Identification of Six Novel Mutations in ZEB1 and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 32015 | 1. lékařská fakulta
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