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22q13.3

A chromosome band present on 22q
National Institutes of Health

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Highly Cited
2013
Highly Cited
2013
Phelan–McDermid syndrome (PMDS) is a complex neurodevelopmental disorder characterized by global developmental delay, severely… Expand
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Highly Cited
2011
Highly Cited
2011
SHANK3 is a synaptic scaffolding protein enriched in the postsynaptic density (PSD) of excitatory synapses. Small microdeletions… Expand
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Highly Cited
2010
Highly Cited
2010
Previous research has suggested that human herpesvirus-6 (HHV-6) may integrate into host cell chromosomes and be vertically… Expand
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Highly Cited
2010
Highly Cited
2010
The 22q13.3 deletion syndrome results from loss of terminal segments of varying sizes at 22qter. Few genotype-phenotype… Expand
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Highly Cited
2008
Highly Cited
2008
OBJECTIVE. The 22q13.3 deletion syndrome (Online Mendelian Inheritance in Man No. 606232) is a neurodevelopmental disorder that… Expand
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Review
2007
Review
2007
The 22q13.3 deletion syndrome is a recognizable malformation syndrome associated with developmental delay, hypotonia, delayed or… Expand
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Highly Cited
2006
Highly Cited
2006
PURPOSE To delineate clinically relevant molecular signatures of intracranial ependymoma. MATERIALS AND METHODS We analyzed 24… Expand
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Highly Cited
2005
Highly Cited
2005
Introduction: The 22q13.3 deletion syndrome (MIM 606232) is characterised by neonatal hypotonia, normal to accelerated growth… Expand
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Review
2002
Review
2002
The postsynaptic density (PSD) is a specialized electron-dense structure underneath the postsynaptic plasmamembrane of excitatory… Expand
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Review
2000
Review
2000
Autism is a rare neurodevelopmental disorder with a strong genetic component. Co-occurrence of autism and chromosomal… Expand
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