Classes
Publications
- Congenital Myasthenia as a Cause of Respiratory Failure in two Infants and a Toddler - Case Reports2012 | First Faculty of Medicine
- Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing2012 | First Faculty of Medicine
- Novel Mutations in the Tyrosine Hydroxylase Gene in the First Czech Patient with Tyrosine Hydroxylase Deficiency2012 | First Faculty of Medicine
- Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male2012 | First Faculty of Medicine
- RFT1-CDG in adult siblings with novel mutations2012 | First Faculty of Medicine
- High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency2012 | First Faculty of Medicine
- YME1L controls the accumulation of respiratory chain subunits and is required for apoptotic resistance, cristae morphogenesis, and cell proliferation2012 | First Faculty of Medicine
- Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I2011 | First Faculty of Medicine
- Rare cause of blindness in patient with nasal polyposis: Lebers hereditary neuropathy of the optic nerve2011 | First Faculty of Medicine
- Two Patients with Clinically Distinct Manifestation of Pyruvate Dehydrogenase Deficiency Due to Mutations in PDHA1 Gene2011 | First Faculty of Medicine
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