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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… 
National Institutes of Health

Papers overview

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Highly Cited
2019
Highly Cited
2019
Rare diseases, an emerging global public health priority, require an evidence-based estimate of the global point prevalence to… 
Highly Cited
2013
Highly Cited
2013
Hemophilia is a rare disorder that is complex to diagnose and to manage. These evidence‐based guidelines offer practical… 
Review
2009
Review
2009
This article reviews the results of 43 studies published since 1966 that provided estimates for the prevalence of pervasive… 
Highly Cited
2007
Highly Cited
2007
BACKGROUND The hyper-IgE syndrome (or Job's syndrome) is a rare disorder of immunity and connective tissue characterized by… 
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… 
Highly Cited
1990
Highly Cited
1990
Isolated noncompaction of left ventricular myocardium is a rare disorder of endomyocardial morphogenesis characterized by… 
Highly Cited
1971
Highly Cited
1971
The 6th meeting was held in London on 2, 3, and 4 September under the presidency of B. H. Billing (United Kingdom). The following…