Search Results - "Loo, Wayne"

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  1. 1

    Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus by Somerville, Martin J, Mervis, Carolyn B, Young, Edwin J, Seo, Eul-Ju, del Campo, Miguel, Bamforth, Stephen, Peregrine, Ella, Loo, Wayne, Lilley, Margaret, Pérez-Jurado, Luis A, Morris, Colleen A, Scherer, Stephen W, Osborne, Lucy R

    Published in The New England journal of medicine (20-10-2005)
    “…A patient carrying an exact duplication of the chromosomal region that is typically deleted in persons with the Williams–Beuren syndrome has severe…”
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    Journal Article
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    The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms by Tam, Elaine, Young, Edwin J., Morris, Colleen A., Marshall, Christian R., Loo, Wayne, Scherer, Stephen W., Mervis, Carolyn B., Osborne, Lucy R.

    “…Williams–Beuren syndrome (WBS) is caused by a ∼1.5 million base pair deletion at 7q11.23. A common inversion of the region, WBSinv‐1, exists as a polymorphism…”
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    Journal Article
  4. 4

    Expression analyses of members of the GTF2I gene family in Williams-Beuren syndrome by Loo, Wayne

    Published 01-01-2004
    “…Williams-Beuren Syndrome (WBS; OMIM 194050) is a multisystem developmental disorder caused by a hemizygous deletion of 7g11.23. To assess the hypothesis that…”
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    Dissertation