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spinal muscular atrophy
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MUDr. Václav Maťoška
External person at Second Faculty of Medicine
15 publications
Publications
publication
Molecular etiopathogenesis of spinal muscular atrophy
2002 |
Second Faculty of Medicine
publication
High-resolution melting analysis for detection of MYH9 mutations
2008 |
Second Faculty of Medicine
publication
Mutated or non-mutated? Which database to choose when determining the IgVH hypermutation status in chronic lymphocytic leukemia?
2006 |
Second Faculty of Medicine
publication
Genotype/phenotype correlation in a SCA1 family: anticipation without CAG expansion
2005 |
Second Faculty of Medicine
publication
Absence of spinocerebellar ataxia type 3/Machado-Joseph disease within ataxic patients in the Czech population
2005 |
Second Faculty of Medicine
publication
Fluorescent multiplex PCR: Fast method for autosomal dominant spinocerebellar ataxias screening
2005 |
Second Faculty of Medicine
publication
Can ataxin-2 be down-regulated by allele-specific de novo DNA methylation in SCA2 patients?
2004 |
Second Faculty of Medicine
publication
Molecular genetic analysis of steroid 21-hydroxylase gene
2004 |
Second Faculty of Medicine
publication
Neurogenetics of muscular dystrophies and congenital myopathies
2004 |
Second Faculty of Medicine
publication
Detection of deletions and uniparental disomies in Prader-Willi and Angelman syndromes - methodical and interpretational aspects
2000 |
Second Faculty of Medicine
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