Publications
- Modern diagnostic and therapeutic approaches in familial maculopathy with reference to North Carolina macular dystrophy2022 | First Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy2022 | First Faculty of Medicine
- Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population2021 | First Faculty of Medicine, Faculty of Medicine in Hradec Králové
- ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings2021 | First Faculty of Medicine
- Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics2020 | First Faculty of Medicine
- Molecular genetic cause of achromatopsia in two patients of Czech origin2019 | First Faculty of Medicine, Central Library of Charles University
- Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case2019 | First Faculty of Medicine
- Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants2016 | First Faculty of Medicine
- Severe retinal degeneration in women with a c .2543del mutation in ORF15 of the RPGR gene2014 | First Faculty of Medicine
- Retina2023 | First Faculty of Medicine, Faculty of Medicine in Hradec Králové, Third Faculty of Medicine
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