Publikace
- Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant2020 | 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
- The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis2019 | 1. lékařská fakulta, 3. lékařská fakulta
- Paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS): clinical findings in twelve patients including recurrence after keratoplasty2019 | 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
- Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization2018 | 1. lékařská fakulta, 3. lékařská fakulta, 2. 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
- Analysis of KERA in four families with cornea plana identifies two novel mutations2018 | 1. lékařská fakulta
- Active transforming growth factor-beta 2 in the aqueous humor of posterior polymorphous corneal dystrophy patients2017 | 1. lékařská fakulta
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