Publications
- Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms2007 | Faculty of Physical Education and Sport
- Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations2004 | Faculty of Physical Education and Sport
- A Novel Missense Mutation 574C-T in SURF1 Gene - Biochemical and Molecular Studies in Seven Children with Leigh Disease2002 | Faculty of Physical Education and Sport
- Molecular Diagnosis of Rett Syndrome: Detection of the Prevalent Mutations in MeCP2 Gene2001 | Faculty of Physical Education and Sport
- Molecular diagnosis of Rett syndrome: Detection of the prevalent mutation in MeCP2 gene in Czech and Slovak patients2001 | Faculty of Physical Education and Sport
- Alpers syndrome with mtDNA depletionet all.2000 | Faculty of Physical Education and Sport
- The most frequent manifestation of mitochondrial DNA( mtDNA) mutation 8344 G Is MERRF.1999 | 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
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