A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspringAn unusual case of Cowden syndrome associated with ganglioneuromatous polyposisAuthor Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopeniaMutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt SignalingPartial deletion of GLRB and GRIA2 in a patient with intellectual disability
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hulumtues
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wetenschapper
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изилдөөчү
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Andreas Rump
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Andreas Rump
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Andreas Rump
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Andreas Rump
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Andreas Rump
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Andreas Rump
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Andreas Rump
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Andreas Rump
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