Results 1 to 10 of about 1,474,438 (314)

Deep learning for rare disease: A scoping review

Journal of Biomedical Informatics, 2022
Junghwan Lee, James R Rogers, Chunhua Weng   +2 more
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The definition of rare disease in China and its prospects

Intractable and Rare Diseases Research, 2022
Yanqin Lu
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Rare Presentation in a Rare Disease

B55. GETTING TO THE HEART OF CARDIOPULMONARY ANOMALIES AND DIAGNOSTIC DILEMMAS IN PH, 2023
A.M. Al-Dobyany, H.A.A. Alsulami, I.S. Khallaf, A. Touman, N. Ghaleb, E. Alqurashi   +5 more
openaire   +1 more source

Large-scale rare variant burden testing in Parkinson's disease

Brain, 2023
Caroline Warly Solsberg, Dan Vitale, Ali Torkamani   +2 more
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Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories

Nature Communications, 2021
Michael Chong, Pedrum Mohammadi-Shemirani, Guillaume Pare   +2 more
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The burden of rare cancers in the United States

Ca-A Cancer Journal for Clinicians, 2017
Carol Desantis, Ahmedin Jemal
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Uncovering the roles of rare variants in common disease through whole-genome sequencing

Nature Reviews Genetics, 2010
Elizabeth T Cirulli, David B Goldstein, Goldstein David B   +2 more
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Rare Disease Terminology and Definitions—A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group

Value in Health, 2015
Trevor Richter, Zeba M Khan, Dyfrig A Hughes   +2 more
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Rare But Curable Disease

Medical Clinics of North America, 1963
openaire   +2 more sources

Zebrafish models ultra-rare X-linked disease

Nature Reviews Genetics, 2014
Linda Koch, Koch Linda
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