Disease Phenotype

The observable properties present during a disease.
National Institutes of Health

Papers overview

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Highly Cited
2014
Highly Cited
2014
To the Editor: The majority of the gene variants discovered by nextgeneration sequencing (NGS) projects are either intronic or… (More)
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Highly Cited
2011
Highly Cited
2011
BACKGROUND Abnormal host-microbe interactions are implicated in the pathogenesis of inflammatory bowel diseases. Previous 16S… (More)
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Highly Cited
2011
Highly Cited
2011
BACKGROUND Crohn's disease and ulcerative colitis are complex disorders with some shared and many unique predisposing genes… (More)
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Highly Cited
2008
Highly Cited
2008
Deciphering the genetic basis of human diseases is an important goal of biomedical research. On the basis of the assumption that… (More)
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Highly Cited
2008
Highly Cited
2008
The advent of microarray technology has made it possible to classify disease states based on gene expression profiles of patients… (More)
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Highly Cited
2005
Highly Cited
2005
Hutchinson-Gilford progeria syndrome (HGPS) is a childhood premature aging disease caused by a spontaneous point mutation in… (More)
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Highly Cited
2004
Highly Cited
2004
OBJECTIVES:Three variants of the CARD15/NOD2 gene (SNP8, SNP12, and SNP13) have been associated with Crohn's disease (CD). We… (More)
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Highly Cited
2002
Highly Cited
2002
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as "Nasu-Hakola disease," is a… (More)
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Highly Cited
2000
Highly Cited
2000
Severe combined immunodeficiency-X1 (SCID-X1) is an X-linked inherited disorder characterized by an early block in T and natural… (More)
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Highly Cited
1999
Highly Cited
1999
Tangier disease (TD) was first discovered nearly 40 years ago in two siblings living on Tangier Island. This autosomal co… (More)
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