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Pena-Shokeir syndrome type I

Known as: Lethal Pena-Shokeir 1 syndrome, Arthrogryposis multiplex congenita, pulmonary hypoplasia, cryptorchidism, and unusual ophthalmological findings, FADS 
A condition characterized by fetal akinesia and intrauterine growth restriction, that may be associated with mutation(s) in the RAPSN or DOK7 genes… Expand
National Institutes of Health

Papers overview

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Highly Cited
2011
Highly Cited
2011
BACKGROUND Blood and tissue long-chain polyunsaturated fatty acid (LC-PUFA) amounts, which have been associated with early… Expand
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Review
2011
Review
2011
Blood and tissue contents of polyunsaturated fatty acid (PUFA) and long-chain PUFA (LC-PUFA) are related to numerous health… Expand
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Highly Cited
2010
Highly Cited
2010
Genetic variability in the FADS1-FADS2 gene cluster [encoding delta-5 (D5D) and delta-6 (D6D) desaturases] has been associated… Expand
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Highly Cited
2010
Highly Cited
2010
The present study contributes to the understanding of the effectiveness of online discussion forum in student learning. A… Expand
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Highly Cited
2008
Highly Cited
2008
BACKGROUND The delta-5 and delta-6 desaturases, encoded by FADS1 and FADS2 genes, are key enzymes in polyunsaturated fatty acid… Expand
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Highly Cited
2008
Highly Cited
2008
Polymorphisms of the human Δ-5 (FADS1) and Δ-6 (FADS2) desaturase genes have been recently described to be associated with the… Expand
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Highly Cited
2002
Highly Cited
2002
OBJECTIVE Age is an important risk factor for osteoarthritis (OA). During aging, nonenzymatic glycation results in the… Expand
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Highly Cited
1999
Highly Cited
1999
BACKGROUND AND PURPOSE We sought to evaluate demographic features, risk factors, clinical profiles, and behavioral abnormalities… Expand
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Highly Cited
1995
Highly Cited
1995
Abstract Intra-plate compressional structures, such as inverted extensional basins and upthrusted basement blocks, play an… Expand
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Highly Cited
1980
Highly Cited
1980
Abstract Though neglect is often thought to be a sign of parietal lobe damage, particularly of the non-dominant hemisphere, there… Expand
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