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CDC-Authored Genomics and Precision Health Publications Database|Home|Public Health Genomics and Precision Health Knowledge Base (PHGKB)

CDC-Authored Genomics and Precision Health Publications Database


Rare Diseases

Last data update: Mar 21, 2025. (Total: 6600 publications)
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Records 1-4 (of 4 Records)
Query Trace: Huntington Disease[original query]
Public Health and Rare Diseases: Oxymoron No More.
Valdez R , Ouyang L , Bolen J .
Prev Chronic Dis 2016 13 E05
Early alterations of brain cellular energy homeostasis in Huntington disease models
Mochel F , Durant B , Meng X , O'Callaghan J , Yu H , Brouillet E , Wheeler VC , Humbert S , Schiffmann R , Durr A .
J Biol Chem 2012 287 (2) 1361-70
Evaluation of the validity and utility of genetic testing for rare diseases.
Grosse SD , Kalman L , Khoury MJ .
Adv Exp Med Biol 2010 686 115-31 type
Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing
Barker SD , Bale S , Booker J , Buller A , Das S , Friedman K , Godwin AK , Grody WW , Highsmith E , Kant JA , Lyon E , Mao R , Monaghan KG , Payne DA , Pratt VM , Schrijver I , Shrimpton AE , Spector E , Telatar M , Toji L , Weck K , Zehnbauer B , Kalman LV .
J Mol Diagn 2009 11 (6) 553-61
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