Publications
- Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant2020 | First Faculty of Medicine, Second Faculty of Medicine
- A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract2020 | First Faculty of Medicine
- Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics2020 | First Faculty of Medicine
- Paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS): clinical findings in twelve patients including recurrence after keratoplasty2019 | First Faculty of Medicine
- Leber hereditary optic neuropathy2017 | First Faculty of Medicine
- Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56*) CRYGD variant in a family with dominantly inherited congenital cataracts2017 | First Faculty of Medicine
- Early Detection of Bilateral Cataracts In Utero May Represent a Manifestation of Severe Congenital Disease2016 | First Faculty of Medicine, Second Faculty of Medicine
- Gene therapy for inherited retinal and optic nerve disorders : current knowledge2016 | First Faculty of Medicine, Faculty of Physical Education and Sport
- Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL22016 | First Faculty of Medicine
- Preimplantation genetic diagnosis and monogenic inherited eye diseases2016 | First Faculty of Medicine
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