Publikace
- Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years2020 | 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
- The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis2019 | 1. lékařská fakulta, 3. lékařská fakulta
- Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy2022 | 1. lékařská fakulta
- Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders2021 | 1. lékařská fakulta
- Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant2020 | 1. lékařská fakulta, 2. lékařská fakulta
- Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants2020 | 1. lékařská fakulta
- Molecular genetic cause of non-syndromic congenital and juvenile cataracts in the Czech populationPublikace bez příslušnosti k fakultě
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