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Věra Juttnerová

5

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Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy

2007 Neuromuscular Disorders
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DNA analysis of patients with SLOS from Czech Republic andSlovakia

2004
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Smith-Lemli-Opitz syndrome: Molecular-genetic analysis of ten families

2000 Journal of Inherited Metabolic Disease
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Characterization of DHCR mutant alleles in 9-SLOS families

1999
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