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Human Molecular Genetics, Vol. 17, Iss. 3, 2008-02 ,pp. : 419-430

Oxford University Press

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John Wiley & Sons Inc

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Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan–Zonana syndrome, two hamartoma syndromes with germline PTEN mutation

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Oxford University Press

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Novel Marfan Syndrome-Associated Mutation in the FBN1 Gene Caused by Parental Mosaicism and Leading to Abnormal Limb Patterning

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Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors

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Oxford University Press

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