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Browsing by Author Rosenfeld, J.A.

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Full TextIssue DateTitleAuthor(s)
2012A systematic survey of loss-of-function variants in human protein-coding genesMacArthur, D.G.; Balasubramanian, S.; Frankish, A.; Huang, N.; Morris, J., et al
2012De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndromeRiviere, J.B.; Bon, B.W. van; Hoischen, A.; Kholmanskikh, S.S.; O'Roak, B.J., et al
2011Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorderTalkowski, M.E.; Mullegama, S.V.; Rosenfeld, J.A.; Bon, B.W. van; Shen, Y., et al
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