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ARTHROGRYPOSIS, DISTAL, TYPE 2B

Known as: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II, WITH CRANIOFACIAL ABNORMALITIES, DA2B, FREEMAN-SHELDON SYNDROME VARIANT 
National Institutes of Health

Related topics

Related topics

14 relations

Broader (1)

Arthrogryposis
Autosomal dominant inheritanceByzanthine arch palateCalcaneovalgus deformityCongenital clubfoot

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2017
Highly Cited
2017
Defining the three cell lineages of the human blastocyst by single-cell RNA-seq
Here, we provide fundamental insights into early human development by single-cell RNA-sequencing of human and mouse… 
Highly Cited
2015
Highly Cited
2015
Designer synthetic media for studying microbial-catalyzed biofuel production
BackgroundThe fermentation inhibition of yeast or bacteria by lignocellulose-derived degradation products, during hexose/pentose… 
Highly Cited
2013
Highly Cited
2013
A ratiometric two-photon fluorescent probe reveals reduction in mitochondrial H2S production in Parkinson's disease gene knockout astrocytes.
Hydrogen sulfide (H2S) is a multifunctional signaling molecule that exerts neuroprotective effects in oxidative stress. In this… 
Highly Cited
2011
Highly Cited
2011
Heavy-particle radioactivity of superheavy nuclei.
The concept of heavy-particle radioactivity (HPR) is changed to allow emitted particles with Z(e) > 28 from parents with Z > 110… 
Review
2009
Review
2009
Lung Cancer in Never Smokers: Clinical Epidemiology and Environmental Risk Factors
More than 161,000 lung cancer deaths are projected to occur in the United States in 2008. Of these, an estimated 10 to 15% will… 
Highly Cited
2009
Highly Cited
2009
Direct numerical simulations of turbulent flows over superhydrophobic surfaces
Direct numerical simulations (DNSs) are used to investigate the drag-reducing performance of superhydrophobic surfaces (SHSs) in… 
Review
2005
Review
2005
Cardiovascular Effects of Secondhand Smoke: Nearly as Large as Smoking
Background—Secondhand smoke increases the risk of coronary heart disease by ≈30%. This effect is larger than one would expect on… 
Highly Cited
2005
Highly Cited
2005
Global mapping of equilibrium and transition structures on potential energy surfaces by the scaled hypersphere search method: applications to ab initio surfaces of formaldehyde and propyne molecules.
  • S. Maeda, K. Ohno
  • The journal of physical chemistry. A
  • 2005
  • Corpus ID: 25429771
Technical details of a new global mapping technique for finding equilibrium (EQ) and transition structures (TS) on potential… 
Highly Cited
2003
Highly Cited
2003
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B.
To the Editor: We recently reported that distal arthrogryposis type 1 (DA1 [MIM 108120]) and distal arthrogryposis type 2B… 
Highly Cited
1999
Highly Cited
1999
Reconstruction of hepatic organoid by rat small hepatocytes and hepatic nonparenchymal cells
Hepatic cells isolated from an adult rat liver, consisting of small hepatocytes (SHs), mature hepatocytes (MHs), liver epithelial… 
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