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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

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Review
2018
Review
2018
Background and Purpose— The purpose of these guidelines is to provide an up-to-date comprehensive set of recommendations for… Expand
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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
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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Review
2000
Review
2000
The rare, genetically based disorder, Williams syndrome (WMS), produces a constellation of distinctive cognitive, neuroanatomical… Expand
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Highly Cited
2000
Highly Cited
2000
In this paper we argue that there are two distinct components of a theory of mind: a social-cognitive and a social-perceptual… Expand
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Highly Cited
2000
Highly Cited
2000
Williams syndrome is a rare neurodevelopmental disorder caused by a hemizygous deletion of approximately 1.5 megabases on… Expand
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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
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Highly Cited
1988
Highly Cited
1988
The natural history of Williams syndrome, including medical complications, growth patterns, and problems in adulthood, was… Expand
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Highly Cited
1970
Highly Cited
1970
The probable importance of NO and NO2 in controlling the ozone concentrations and production rates in the stratosphere is pointed… Expand
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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
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