Classes
Publications
- RFT1-CDG in adult siblings with novel mutations2012 | First Faculty of Medicine
- Novel Mutations in the Tyrosine Hydroxylase Gene in the First Czech Patient with Tyrosine Hydroxylase Deficiency2012 | First Faculty of Medicine
- Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency2012 | First Faculty of Medicine
- Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I2011 | First Faculty of Medicine
- Myoclonic Epilepsy and Deafness in Siblings with the 7512T>C Mutation in the Mitochondrial Encoded tRNA(Ser(UCN)) Gene - Case Reports2010 | First Faculty of Medicine, Faculty of Science, Faculty of Physical Education and Sport, Faculty of Medicine in Hradec Králové
- Myoclonic Epilepsy and Deafness in Siblings with the 7512T > C Mutation in the Mitochondrial Encoded tRNA(Ser(UCN)) Gene - Case Reports2010 | First Faculty of Medicine
- Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation2010 | First Faculty of Medicine
- A new case of ALG8 deficiency (CDG Ih)2009 | First Faculty of Medicine, Third Faculty of Medicine
- Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from alpha-mannosidosis patients2009 | First Faculty of Medicine
- Cytochrome C oxidase deficiency in childhood2009 | First Faculty of Medicine
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