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Williams Syndrome

Known as: Supravalvar Aortic Stenosis Syndrome, Syndrome, Williams-Beuren, Stenoses, Hypercalcemia-Supravalvar Aortic 
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include… Expand
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2011
Highly Cited
2011
We have undertaken a genome-wide analysis of rare copy-number variation (CNV) in 1124 autism spectrum disorder (ASD) families… Expand
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Review
2003
Review
2003
  • A. Baddeley
  • Journal of communication disorders
  • 2003
  • Corpus ID: 8109875
Working memory involves the temporary storage and manipulation of information that is assumed to be necessary for a wide range of… Expand
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Review
2002
Review
2002
There are limited population-based data on the occurrence of Williams syndrome. We estimated its prevalence combining data from… Expand
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Review
2002
Review
2002
The peroxisome proliferator-activated receptors (PPARs) are a group of three nuclear receptor isoforms, PPAR gamma, PPAR alpha… Expand
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Highly Cited
2002
Highly Cited
2002
The key mental domains in which sex differences have traditionally been studied are verbal and spatial abilities. In this article… Expand
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Review
2000
Review
2000
The rare, genetically based disorder, Williams syndrome (WMS), produces a constellation of distinctive cognitive, neuroanatomical… Expand
Highly Cited
1993
Highly Cited
1993
Williams syndrome (WS) is a developmental disorder affecting connective tissue and the central nervous system. A common feature… Expand
Highly Cited
1988
Highly Cited
1988
The natural history of Williams syndrome, including medical complications, growth patterns, and problems in adulthood, was… Expand
Review
1982
Review
1982
This was my first encounter with a frankly amazing book that offers succinct monographs on a wide range of drugs and other… Expand
Highly Cited
1969
Highly Cited
1969
The Lighthill-Curle theory of aerodynamic sound is extended to include arbitrary convective motion. The Kirchhoff description of… Expand