Publikace
- Mitochondrial Membrane Potential and ATP Production in Primary Disorders of ATP Synthase2004 | 1. lékařská fakulta
- Biochemical expression of mtDNA mutation 9205delTA in ATP6 genePublikace bez příslušnosti k fakultě
- mtDNA 9205delTA in ATP6 gene and its clinical and biochemical expressionPublikace bez příslušnosti k fakultě
- Mitochondrial DNA microdeletion 9204delAT in ATP6 gene in family with encephalopathy. Lactic Acidosis and ATP synthase deficiencyPublikace bez příslušnosti k fakultě
- 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
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