Classes
Publications
- 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
- 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
- Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from alpha-mannosidosis patients2009 | First Faculty of Medicine
- Girl with congenital disorder of glycosylation - case report2009 | First Faculty of Medicine
- Congenital Disorders of Glycosylation Type Ia: Clinical, Biochemical and Molecular Analyses in Two Siblings with Cerebellar Hypoplasia2003 | First Faculty of Medicine
- Clinical and Molecular Analyses in Eight Children with Congenital Disorders of Glycosylation2003 | First Faculty of Medicine
- Biochemical and molecular analyses in 8 children with CDG syndrome type IPublication without faculty affiliation
- Friedreich's Ataxia: Treatment on the Horizon!2023 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
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