Publikace
- Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles2021 | 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
- Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications2020 | 1. lékařská fakulta, 2. lékařská fakulta
- A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract2020 | 1. lékařská fakulta
- Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants2020 | 1. lékařská fakulta
- Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 32019 | 1. 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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