Publikace
- A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus2021 | 1. lékařská fakulta
- 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
- Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years2020 | 1. lékařská fakulta
- A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract2020 | 1. lékařská fakulta
- Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics2020 | 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
- Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants2020 | 1. lékařská fakulta
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