Search Results - "Loo, Wayne"
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Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus
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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Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus
Published in The New England journal of medicine (20-10-2005)Get full text
Journal Article -
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The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms
Published in American journal of medical genetics. Part A (15-07-2008)“…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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Expression analyses of members of the GTF2I gene family in Williams-Beuren syndrome
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