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MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I

Known as: Osteodysplastic primordial dwarfism, type 1, Taybi Linder syndrome, Microcephalic osteodysplastic primordial dwarfism, type 1 
 
National Institutes of Health

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2013
2013
We describe five patients from three different families with microcephalic osteodysplastic primordial dwarfism type I (MOPD I… Expand
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Highly Cited
2012
Highly Cited
2012
  • K. Joynt, A. Jha
  • The New England journal of medicine
  • 2012
  • Corpus ID: 32753397
Under the Affordable Care Act, hospitals with “worse than expected” 30-day readmission rates will be penalized by Medicare. But… Expand
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2012
2012
Nagy R, Wang H, Albrecht B, Wieczorek D, Gillessen‐Kaesbach G, Haan E, Meinecke P, de la Chapelle A, Westman JA. Microcephalic… Expand
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Highly Cited
2011
Highly Cited
2011
Mutation in a small nuclear RNA hinders splicing of pre–messenger RNAs and causes the severe malformations of Taybi-Linder… Expand
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Review
2011
Review
2011
TAL (transcription activator-like) effectors constitute a novel class of DNA-binding proteins with predictable specificity. They… Expand
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Highly Cited
2010
Highly Cited
2010
Abstract Conchostracans or clam shrimp (order Conchostraca Sars) are arthropods with a carapace consisting of two chitinous… Expand
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Highly Cited
2008
Highly Cited
2008
  • J. Iglehart
  • The New England journal of medicine
  • 2008
  • Corpus ID: 205104756
On December 2, the Institute of Medicine (IOM) issued a report recommending that further measures be taken to ensure that… Expand
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Highly Cited
2007
Highly Cited
2007
In this paper, the recently developed Extreme Learning Machine (ELM) is used for directing multicategory classification problems… Expand
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Review
2002
Review
2002
To understand the potential role of cyclooxygenase (COX) in normal and inflammatory human diseases, we characterized the… Expand
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Highly Cited
1998
Highly Cited
1998
Crystal Calorimetry in future high-energy physics experiments faces a new challenge to maintain its precision in a hostile… Expand
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