Publications
- Acute hyperammonaemic encephalopathy in a female newborn caused by a novel, de novo mutation in the ornithine transcarbamylase gene2004 | Faculty of Physical Education and Sport
- Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms2007 | Faculty of Physical Education and Sport
- A New Mutation within the Porphobilinogen Deaminase Gene Leading to a Truncated Protein as a Cause of Acute Intermittent Porphyria in an Extended Indian Family2007 | Faculty of Physical Education and Sport
- X- linked dominant chondrodysplasie punctata (CDPX2): Multisystemic impact of the defect in cholesterol biosynthesis2007 | Faculty of Physical Education and Sport
- Globoid cell leukodystrophy (Krebbe's disease). A series of Czech patients and a survey of current views of biology and differential2006 | Faculty of Physical Education and Sport
- X-linked Adrenoleukodystrophy in Twenty One Czech Patients2006 | Faculty of Physical Education and Sport
- From the history of foster care2006 | Faculty of Physical Education and Sport
- Fumaric aciduria: Mild phenotype in a 8-year-old girl with novel mutations2006 | Faculty of Physical Education and Sport
- A novel insertion of a rearranged L1 element in exon 44 og the dystrophin gene: Further evidence for possible bias in retroposon integration2006 | Faculty of Physical Education and Sport
- Post-exercise acute rhabdomyolysis - benign sign or symptom of serious muscular disease?2006 | Faculty of Physical Education and Sport
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