Publications
- DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome2022 | First Faculty of Medicine
- Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases2022 | First Faculty of Medicine
- Lipoprotein Lipase Deficiency: Clinical, Biochemical and Molecular Characteristics in Three Patients with Novel Mutations in the LPL Gene2014 | First Faculty of Medicine
- Children's Ophthalmology2022 | First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Pilsen, Faculty of Education, Faculty of Medicine in Hradec Králové
- Transient Hyperphosphatasemia in a Child with Autism Spectrum Disorder2022 | First Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Pilsen
- Metabolic myopathies2022 | First Faculty of Medicine
- A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome2022 | First Faculty of Medicine
- Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study2022 | First Faculty of Medicine
- Subjective and polysomnographic evaluation of sleep in mitochondrial optic neuropathies2021 | First Faculty of Medicine
- The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions2020 | First Faculty of Medicine, Second Faculty of Medicine
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