Congenital muscular hypertrophy-cerebral syndrome

Known as: CdLS2, Cornelia de Lange Syndrome, X Linked, X-Linked Cornelia De Lange Syndrome 
An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder… (More)
National Institutes of Health

Papers overview

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Review
2012
Review
2012
Tremendous progress has been made in recent years in understanding the working of the living cell, including its micro-anatomy… (More)
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Highly Cited
2009
Highly Cited
2009
Stress and anxiety are mainly regulated by amygdala and hypothalamic circuitries involving several neurotransmitter systems and… (More)
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2009
2009
BackgroundFalls are among the predominant causes for morbidity and mortality in elderly persons and occur most often in geriatric… (More)
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2007
2007
Nymphaea is the most speciose, phenotypically diverse, and geographically widespread (nearly global) genus of Nymphaeales… (More)
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2007
2007
Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder characterized by facial dysmorphism, growth and mental… (More)
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Highly Cited
2006
Highly Cited
2006
Cornelia de Lange syndrome is a multisystem developmental disorder characterized by facial dysmorphisms, upper limb abnormalities… (More)
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Highly Cited
2005
Highly Cited
2005
The aim of this pilot study was to evaluate whether the technique of magnetic fluid hyperthermia can be used for minimally… (More)
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Highly Cited
2003
Highly Cited
2003
Protein transduction domains (PTDs) are short basic peptide sequences present in many cellular and viral proteins that mediate… (More)
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2003
2003
Emissions of volatile chemicals control the hydroxyl radical (OH), the atmosphere's main cleansing agent, and thus the production… (More)
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