Skip to search formSkip to main contentSkip to account menu

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

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2019
Highly Cited
2019
Highly Cited
2015
Highly Cited
2015
  • Klaudia Josine L. Jie Lucy Yasin Shane John R. B. ChangJia Walter Min Huang Crooks Memari McCarthy Perry Xu F, Klaudia Walter, Weihua Zhang
  • Nature
  • 2015
  • Corpus ID: 215778479
The contribution of rare and low-frequency variants to human traits is largely unexplored. Here we describe insights from… 
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… 
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… 
Highly Cited
2010
Highly Cited
2010
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
2000
Highly Cited
2000
Paraneoplastic limbic encephalitis (PLE) is a rare disorder characterized by personality changes, irritability, depression… 
Highly Cited
1990
Highly Cited
1990
Isolated noncompaction of left ventricular myocardium is a rare disorder of endomyocardial morphogenesis characterized by…