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

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
We describe five patients from three different families with microcephalic osteodysplastic primordial dwarfism type I (MOPD I… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
2012
2012
Microcephalic osteodysplastic primordial dwarfism type I (MOPD I) is a rare autosomal recessive developmental disorder… (More)
  • figure 1
  • figure 2
  • figure 3
Is this relevant?
Highly Cited
2012
Highly Cited
2012
tals would then have a direct incentive to invest in reducing readmissions, and Medicare would benefit from immediate savings and… (More)
Is this relevant?
Highly Cited
2011
Highly Cited
2011
Small nuclear RNAs (snRNAs) are essential factors in messenger RNA splicing. By means of homozygosity mapping and deep sequencing… (More)
  • figure 1
  • figure 2
Is this relevant?
Highly Cited
2011
Highly Cited
2011
BACKGROUND Earthquakes are one of the most frequently occurring natural disasters and extensive research has been conducted on… (More)
Is this relevant?
Review
2011
Review
2011
TAL (transcription activator-like) effectors constitute a novel class of DNA-binding proteins with predictable specificity. They… (More)
  • figure 1
  • figure 2
  • table 1
  • figure 3
Is this relevant?
Highly Cited
2006
Highly Cited
2006
NaCl absorption by the thick ascending limb of Henle's loop (TAL) is mediated by the apical Na-K-2Cl cotransporter NKCC2. cAMP… (More)
Is this relevant?
Highly Cited
2004
Highly Cited
2004
Salmonella enterica serotype Enteritidis emerged as an important illness during the 1980s. Investigations showed that consumption… (More)
  • figure 1
  • figure 2
  • table 1
  • figure 3
  • figure 4
Is this relevant?
1998
1998
Crystal Calorimetry in future high-energy physics experiments faces a new challenge to maintain its precision in a hostile… (More)
  • table 2
  • table 2
  • figure 1
  • figure 3
  • figure 2
Is this relevant?
1993
1993
A case of microcephalic, osteodysplastic, primordial dwarfism (cephaloskeletal dysplasia of Taybi and Linder) is reported. This… (More)
Is this relevant?