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ARTHROGRYPOSIS, DISTAL, TYPE 2B
Known as:
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II, WITH CRANIOFACIAL ABNORMALITIES
, DA2B
, FREEMAN-SHELDON SYNDROME VARIANT
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National Institutes of Health
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Related topics
Related topics
14 relations
Broader (1)
Arthrogryposis
Autosomal dominant inheritance
Byzanthine arch palate
Calcaneovalgus deformity
Congenital clubfoot
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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
Paul Blakeley
,
N. Fogarty
,
+7 authors
K. Niakan
Mechanisms of Development
2017
Corpus ID: 5928460
Here, we provide fundamental insights into early human development by single-cell RNA-sequencing of human and mouse…
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Highly Cited
2015
Highly Cited
2015
Designer synthetic media for studying microbial-catalyzed biofuel production
Xiaoyu Tang
,
Leonardo da Costa Sousa
,
+6 authors
Venkatesh Balan
Biotechnology for Biofuels
2015
Corpus ID: 16588752
BackgroundThe fermentation inhibition of yeast or bacteria by lignocellulose-derived degradation products, during hexose/pentose…
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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.
Sung Keun Bae
,
C. Heo
,
+4 authors
Hwan Myung Kim
Journal of the American Chemical Society
2013
Corpus ID: 207097811
Hydrogen sulfide (H2S) is a multifunctional signaling molecule that exerts neuroprotective effects in oxidative stress. In this…
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Highly Cited
2011
Highly Cited
2011
Heavy-particle radioactivity of superheavy nuclei.
D. Poenaru
,
R. Gherghescu
,
W. Greiner
Physical review letters
2011
Corpus ID: 38906110
The concept of heavy-particle radioactivity (HPR) is changed to allow emitted particles with Z(e) > 28 from parents with Z > 110…
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Review
2009
Review
2009
Lung Cancer in Never Smokers: Clinical Epidemiology and Environmental Risk Factors
J. Samet
,
E. Avila-Tang
,
+4 authors
C. Rudin
Clinical Cancer Research
2009
Corpus ID: 17043101
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…
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Highly Cited
2009
Highly Cited
2009
Direct numerical simulations of turbulent flows over superhydrophobic surfaces
Michael B. Martell
,
J. B. Perot
,
J. Rothstein
Journal of Fluid Mechanics
2009
Corpus ID: 10210993
Direct numerical simulations (DNSs) are used to investigate the drag-reducing performance of superhydrophobic surfaces (SHSs) in…
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Review
2005
Review
2005
Cardiovascular Effects of Secondhand Smoke: Nearly as Large as Smoking
J. Barnoya
,
S. Glantz
Circulation
2005
Corpus ID: 2291566
Background—Secondhand smoke increases the risk of coronary heart disease by ≈30%. This effect is larger than one would expect on…
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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…
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Highly Cited
2003
Highly Cited
2003
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B.
Sandy S Sung
,
Anna-Marie E Brassington
,
P. Krakowiak
,
J. Carey
,
L. Jorde
,
M. Bamshad
American journal of human genetics
2003
Corpus ID: 19669156
To the Editor: We recently reported that distal arthrogryposis type 1 (DA1 [MIM 108120]) and distal arthrogryposis type 2B…
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Highly Cited
1999
Highly Cited
1999
Reconstruction of hepatic organoid by rat small hepatocytes and hepatic nonparenchymal cells
T. Mitaka
,
F. Sato
,
T. Mizuguchi
,
T. Yokono
,
Y. Mochizuki
Hepatology
1999
Corpus ID: 19316683
Hepatic cells isolated from an adult rat liver, consisting of small hepatocytes (SHs), mature hepatocytes (MHs), liver epithelial…
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