- ApreciseKUre: an approach of Precision Medicine in a Rare Disease.
Spiga Ottavia et al. BMC medical informatics and decision making 2017 Apr 17(1) 42
- Searching for a diagnosis: a network of doctors tries to solve medical mysteries
A Gorman, Stat News, April 20, 2017
- Parent training education program: a pilot study, involving families of children with Prader-Willi syndrome.
Kodra Yllka et al. Annali dell'Istituto superiore di sanita 52(3) 428-433
- Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.
Stinton Chris et al. Orphanet journal of rare diseases 2017 Mar 12(1) 48
- The need for a next-generation public health response to rare diseases.
R Valdez et al, CDC Blog Post, February 2017
domingo, 23 de abril de 2017
Rare diseases|https://phgkb.cdc.gov/GAPPKB/phgHome.do|Rare diseases
From From Genomics & Health Impact Scan Database
This database includes published scientific literature on evidence-based translation of genomic discoveries into improved health care and disease prevention that have a potential impact on population health.