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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

Related topics

Related topics

22 relations
Bile Acid Malabsorption, PrimaryChildhood Breast CarcinomaChildhood Colorectal CarcinomaChildhood Gastric Carcinoma
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Narrower (3)

Oculootoradial syndromeOrphan DiseasesREVESZ SYNDROME (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2019
Review
2019
Clinical Management of Congenital Hypogonadotropic Hypogonadism.
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
C3 glomerulopathy — understanding a rare complement-driven renal disease
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
Drug repurposing: progress, challenges and recommendations
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
Genome Editing in Induced Pluripotent Stem Cells using CRISPR/Cas9
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 UK10K project identifies rare variants in health and disease
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
Introduction
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
Genetic Heterogeneity in Human Disease
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
A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic
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
Human skin wounds: a major and snowballing threat to public health and the economy.
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
Office of Rare Diseases neuropathologic criteria for corticobasal degeneration.
A working group supported by the Office of Rare Diseases of the National Institutes of Health formulated neuropathologic criteria… Expand
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