Publications
- DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome2022 | First Faculty of Medicine
- 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
- 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
- Optical cohorence tomography2022 | First Faculty of Medicine, Central Library of Charles University
- 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
- 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
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