Publikace
- Different laboratory and muscle biopsy findings in a family with an m.8851T > C mutation in the mitochondrial MTATP6 gene2013 | 1. lékařská fakulta, 2. lékařská fakulta
- Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder2013 | 1. lékařská fakulta
- Novel Mutations in the TAZ Gene in Patients with Barth Syndrome2013 | 1. lékařská fakulta
- Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids2013 | 1. lékařská fakulta
- 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
- Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male2012 | 1. lékařská fakulta
- Nové mutace v genu pro tyrosinhydroxylázu u českých pacientů s tyrosinémií2012 | 1. lékařská fakulta
- High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency2012 | 1. lékařská fakulta
- Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis2012 | 1. lékařská fakulta
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