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Human Molecular Genetics, Vol. 14, Iss. 18, 2005-09 ,pp. : 2619-2627

Oxford University Press

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MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome

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FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome

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Human Molecular Genetics, Vol. 12, Iss. 10, 2003-05 ,pp. : 1179-1185

Oxford University Press

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Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

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Human Genetics, Vol. 130, Iss. 4, 2011-10 ,pp. : 563-573

Springer Publishing Company

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A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes

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Human Molecular Genetics, Vol. 17, Iss. 13, 2008-07 ,pp. : 1968-1977

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