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Cornelia De Lange Syndrome

Known as: Syndrome, Brachmann-De Lange, syndrome cornelia de lange, Typus Degenerativus Amstelodamensis 
A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears… Expand
National Institutes of Health

Papers overview

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Highly Cited
2012
Highly Cited
2012
Cornelia de Lange syndrome (CdLS) is a dominantly inherited congenital malformation disorder, caused by mutations in the cohesin… Expand
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Highly Cited
2012
Highly Cited
2012
Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia… Expand
Review
2009
Review
2009
Cornelia de Lange syndrome (CdLS) (OMIM #122470, #300590 and #610759) is a dominant genetic disorder with multiple organ system… Expand
Highly Cited
2007
Highly Cited
2007
Mutations in the cohesin regulators NIPBL and ESCO2 are causative of the Cornelia de Lange syndrome (CdLS) and Roberts or SC… Expand
Highly Cited
2007
Highly Cited
2007
Black carbon (BC), the product of incomplete combustion of fossil fuels and biomass (called elemental carbon (EC) in atmospheric… 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
2004
Highly Cited
2004
Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited multisystem developmental disorder characterized by… Expand
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Highly Cited
2004
Highly Cited
2004
Cornelia de Lange syndrome (CdLS) is a multiple malformation disorder characterized by dysmorphic facial features, mental… Expand
  • figure 1
  • table 1
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  • figure 3
  • figure 4
Highly Cited
2004
Highly Cited
2004
The Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder characterized by facial dysmorphia, upper-extremity… Expand
Highly Cited
1978
Highly Cited
1978
  • D. Amaral
  • The Journal of comparative neurology
  • 1978
  • Corpus ID: 44257239
The morphology of neurons in the “hilar region” of the hippocampus (fields CA3c and CA4 of Lorente de Nó, '34) was analyzed with… Expand