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Rare Diseases

Known as: Rare Disease, Rare Diseases [Disease/Finding], disease rare 
A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis… Expand
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2019
Review
2019
The initiation and maintenance of reproductive capacity in humans is dependent on pulsatile secretion of the hypothalamic hormone… Expand
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Review
2019
Review
2019
The C3 glomerulopathies are a group of rare kidney diseases characterized by complement dysregulation occurring in the fluid… Expand
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Review
2019
Review
2019
Given the high attrition rates, substantial costs and slow pace of new drug discovery and development, repurposing of 'old' drugs… Expand
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Review
2018
Review
2018
The development of the reprogramming technology led to generation of induced Pluripotent Stem Cells (iPSC) from a variety of… Expand
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Highly Cited
2015
Highly Cited
2015
The contribution of rare and low-frequency variants to human traits is largely unexplored. Here we describe insights from… Expand
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Highly Cited
2013
Highly Cited
2013
nature medicine volume 19 | number 5 | may 2013 515 Life is short—especially for children with Hutchinson-Gilford progeria… Expand
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Highly Cited
2010
Highly Cited
2010
Strong evidence suggests that rare mutations of severe effect are responsible for a substantial portion of complex human disease… Expand
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Highly Cited
2009
Highly Cited
2009
Resequencing is an emerging tool for identification of rare disease-associated mutations. Rare mutations are difficult to tag… Expand
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Highly Cited
2009
Highly Cited
2009
ABSTRACT In the United States, chronic wounds affect 6.5 million patients. An estimated excess of US$25 billion is spent annually… Expand
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Highly Cited
2002
Highly Cited
2002
A working group supported by the Office of Rare Diseases of the National Institutes of Health formulated neuropathologic criteria… Expand
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