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- 2011
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Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities Background Document to the ESHG recommendations on genetic testing and common disorders
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- Contribution to journal › Article
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Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
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- Contribution to journal › Article
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Evidence of severe mitochondrial oxidative stress and a protective effect of low oxygen in mouse models of inherited photoreceptor degeneration
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- Contribution to journal › Article
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Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers
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- Contribution to journal › Article
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Autophagy is increased in laminin {alpha}2 chain-deficient muscle and its inhibition improves muscle morphology in a mouse model of MDC1A.
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- Contribution to journal › Article
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Fusion Gene Microarray Reveals Cancer Type-Specificity Among Fusion Genes
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- Contribution to journal › Article
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A candidate gene study of the type I interferon pathway implicates IKBKE and IL8 as risk loci for SLE
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- Contribution to journal › Article
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Mutation Update for the PORCN Gene
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- Contribution to journal › Article
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Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia
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- Contribution to journal › Article
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Proteasome Inhibition Improves the Muscle of Laminin {alpha}2 Chain Deficient Mice.
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- Contribution to journal › Article