Publikace
- Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation2020 | 1. lékařská fakulta
- Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient2014 | 1. lékařská fakulta
- Pierpont syndrome due to mutation c.1337A > G in TBL1XR1 gene2022 | 1. lékařská fakulta
- The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions2020 | 1. lékařská fakulta, 2. lékařská fakulta
- Sideroblastic anemia associated with multisystem mitochondrial disorders2019 | 1. lékařská fakulta, 2. lékařská fakulta
- POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene2019 | 1. lékařská fakulta, Ústřední knihovna
- Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature2017 | 1. lékařská fakulta, 2. lékařská fakulta
- High-resolution melting analysis for identifying sequence variations in nuclear genes for assembly factors and structural subunits of cytochrome c oxidase2015 | 1. lékařská fakulta
- Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders2014 | 1. lékařská fakulta
- Novel Mutations in the TAZ Gene in Patients with Barth Syndrome2013 | 1. lékařská fakulta
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