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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… Expand
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2012
Review
2012
  • S. Fenz, K. Sengupta
  • Integrative biology : quantitative biosciences…
  • 2012
  • Corpus ID: 11775215
Tremendous progress has been made in recent years in understanding the working of the living cell, including its micro-anatomy… Expand
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Highly Cited
2010
Highly Cited
2010
Body fluids are easily accessible and contain valuable indices for medical diagnosis. Fascinating tools are tumour cells… Expand
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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… Expand
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Highly Cited
2007
Highly Cited
2007
Nymphaea is the most speciose, phenotypically diverse, and geographically widespread (nearly global) genus of Nymphaeales… Expand
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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… Expand
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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… Expand
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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… Expand
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Highly Cited
2003
Highly Cited
2003
Emissions of volatile chemicals control the hydroxyl radical (OH), the atmosphere's main cleansing agent, and thus the production… Expand
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Highly Cited
2000
Highly Cited
2000
We seek to reconstruct the phylogenetic relationships of the damselfly genus Calopteryx, for which extensive behavioral and… Expand
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Highly Cited
1980
Highly Cited
1980
i Some cognitive psychologists, who have tried to approach psychometric theories, say that they do not provide them with theories… Expand
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