Publikace
- Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing2012 | 1. lékařská fakulta
- Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB92012 | 1. lékařská fakulta
- Hepatocelulární karcinom u kojence s tyrosinemií typ 12023 | 1. lékařská fakulta, 2. lékařská fakulta
- 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 | Přírodovědecká fakulta, 1. lékařská fakulta
- ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability2023 | 1. lékařská fakulta
- DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome2022 | 1. lékařská fakulta
- Pierpont syndrome due to mutation c.1337A > G in TBL1XR1 gene2022 | 1. lékařská fakulta
- Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant2022 | 1. lékařská fakulta
- A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome2022 | 1. lékařská fakulta
- Homozygous missense mutation in UQCRC2 associated with severe encephalomyopathy, mitochondrial complex III assembly defect and activation of mitochondrial protein quality control2021 | Přírodovědecká fakulta, 1. lékařská fakulta, 2. lékařská fakulta
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