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Abnormality of the skeletal system

Known as: Skeletal abnormalities, Skeletal anomalies 
An abnormality of the skeletal system. [HPO:probinson]
National Institutes of Health

Papers overview

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Highly Cited
2004
Highly Cited
2004
We studied a mouse model of the haploinsufficiency form of Rubinstein-Taybi syndrome (RTS), an inheritable disorder caused by… Expand
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Highly Cited
1997
Highly Cited
1997
We have generated Cbfa1-deficient mice. Homozygous mutants die of respiratory failure shortly after birth. Analysis of their… Expand
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Highly Cited
1997
Highly Cited
1997
The identification of mutations in the SRY-related SOX9 gene in patients with campomelic dysplasia, a severe skeletal… Expand
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Highly Cited
1997
Highly Cited
1997
Mutations in human SOX9 are associated with campomelic dysplasia (CD), characterised by skeletal malformation and XY sex… Expand
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Review
1996
Review
1996
  • A. Sancar
  • Annual review of biochemistry
  • 1996
  • Corpus ID: 34487021
In nucleotide excision repair DNA damage is removed through incision of the damaged strand on both sides of the lesion, followed… Expand
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Highly Cited
1996
Highly Cited
1996
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked condition characterized by pre-and postnatal overgrowth with visceral and… Expand
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Review
1995
Review
1995
Much of our knowledge about cartilage and bone has come from descriptive anatomy, endocrinology, and cellular studies of bone… Expand
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Highly Cited
1994
Highly Cited
1994
Numerous congenital malformations have been observed in fetuses of vitamin A-deficient (VAD) dams [Wilson, J. G., Roth, C. B… Expand
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Review
1990
Review
1990
  • P. A. Parsons
  • Biological reviews of the Cambridge Philosophical…
  • 1990
  • Corpus ID: 121286
(1) Fluctuating asymmetry (FA) is a useful trait for monitoring stress in the laboratory and in natural environments. 
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Highly Cited
1973
Highly Cited
1973
The cerebro-hepato-renal syndrome is a rare familial malady with cerebral, renal, and skeletal abnormalities, severe hypotonia… Expand
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