Publications
- Children's Ophthalmology2022 | First Faculty of Medicine, Faculty of Medicine in Hradec Králové, Second Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Education
- Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease2021 | First Faculty of Medicine, Faculty of Medicine in Hradec Králové, Second Faculty of Medicine, Central Library of Charles University
- Impact of newborn screening and early dietary management on clinical outcome of patients with long chain 3-hydroxyacyl-coa dehydrogenase deficiency and medium chain acyl-coa dehydrogenase deficiency-a retrospective nationwide study2021 | First Faculty of Medicine, Third Faculty of Medicine, Faculty of Mathematics and Physics
- 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
- Chloroquine retinopathy: case report and recommendations for screening2013 | First Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Minimal Ocular Findings in a Patient with Best Disease Caused by the c.653G>A Mutation in BEST12011 | First Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Retina2023 | First Faculty of Medicine, Faculty of Medicine in Hradec Králové, Third Faculty of Medicine
- MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma2023 | First Faculty of Medicine, Second Faculty of Medicine
- Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes +12023 | First Faculty of Medicine, Faculty of Science
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