LETHAL CONGENITAL CONTRACTURE SYNDROME 1

Known as: MULTIPLE CONTRACTURE SYNDROME, FINNISH TYPE, LCCS1, LCCS 
 
National Institutes of Health

Papers overview

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2012
2012
In humans, GLE1 is mutated in lethal congenital contracture syndrome 1 (LCCS1) leading to prenatal death of all affected fetuses… (More)
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2012
2012
This article investigates the feasibility of using a hybrid HVDC transmission system for the integration of offshore wind farms… (More)
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2011
2011
BACKGROUND Nanomaterials are considered to be the pre-eminent component of the rapidly advancing field of nanotechnology. However… (More)
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2010
2010
The hypothesis that Na(+) influx during the action potential (AP) activates reverse Na(+)-Ca(2+) exchange (NCX) and subsequent… (More)
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2010
2010
In cardiac myocytes, excitation-contraction coupling depends upon sarcoplasmic reticular Ca2+ release triggered by Ca2+ influx… (More)
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2005
2005
Certain signaling events that promote L-type Ca2+ channel (LCC) phosphorylation, such as beta-adrenergic stimulation or an… (More)
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2004
2004
Histopathologic classification of lung carcinoma is important, as a prognostic factor and in the evaluation of treatment… (More)
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2003
2003
OBJECTIVE Several members of the PKD gene family (PKD2, PKDL and PKD2L2) are expressed in the heart. Polycystin-2 and its… (More)
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1994
1994
In a national morphology based study of lethal arthrogryposis between 1979 and 1992, 40 fetuses and infants with lethal… (More)
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Highly Cited
1989
Highly Cited
1989
The U.S. airline industry went through tremendous turmoil in the early 2000’s. There were four major bankruptcies and two major… (More)
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