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22q13.3 Deletion Syndrome

Known as: PHELAN-MCDERMID SYNDROME, Telomeric 22q13 Monosomy Syndrome, Deletion 22q13 Syndrome 
 
National Institutes of Health

Papers overview

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Highly Cited
2014
Highly Cited
2014
Stimulated by the pioneering work of Goffman (1963), research into the causes and consequences of stigma has proliferated over… Expand
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Highly Cited
2011
Highly Cited
2011
Autism spectrum disorders (ASDs) comprise a range of disorders that share a core of neurobehavioural deficits characterized by… Expand
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Highly Cited
2011
Highly Cited
2011
The 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a contiguous gene disorder resulting from deletion of… Expand
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Highly Cited
2010
Highly Cited
2010
BackgroundSHANK3 is a protein in the core of the postsynaptic density (PSD) and has a critical role in recruiting many key… Expand
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Highly Cited
2008
Highly Cited
2008
  • M. Phelan
  • Orphanet journal of rare diseases
  • 2008
  • Corpus ID: 17196025
The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome… Expand
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Highly Cited
2007
Highly Cited
2007
1. Aquatic insects emerging from streams can provide an important energy subsidy to recipient consumers such as riparian web… Expand
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Highly Cited
2005
Highly Cited
2005
CpG islands are present in one-half of all human and mouse genes and typically overlap with promoters or exons. We developed a… Expand
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Highly Cited
2003
Highly Cited
2003
Methods: The 22q13 deletion syndrome (MIM 606232) is characterised by moderate to profound mental retardation, delay/absence of… Expand
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Highly Cited
2001
Highly Cited
2001
The terminal 22q13.3 deletion syndrome is characterized by severe expressive-language delay, mild mental retardation, hypotonia… Expand
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Highly Cited
2001
Highly Cited
2001
We have recently collected clinical information on 37 individuals with deletion of 22q13 and compared the features of these… Expand
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