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Disease Phenotype

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

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2019
Review
2019
Exosomes are a class of extracellular vesicles of endocytic origin, which are released by cells and are accessible in biofluids… Expand
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Review
2019
Review
2019
Purpose of reviewThis review aims to highlight recent research on the gut microbiome in IBD and the application of microbiome… Expand
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Review
2018
Review
2018
The prevalence of type 2 diabetes in adolescents and young adults is dramatically increasing. Similar to older-onset type 2… Expand
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Highly Cited
2016
Highly Cited
2016
Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA… Expand
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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… Expand
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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… Expand
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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… Expand
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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… Expand
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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… Expand
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Highly Cited
1994
Highly Cited
1994
We have analysed 118 families with inherited medullary thyroid carcinoma (MTC) for mutations of the RET proto–oncogene. These… Expand
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