Last Posted: Apr 24, 2017
When even genome sequencing does not provide a diagnosis.
Tech Review, April 2017
Massive-scale genomic data sharing to improve rare disease diagnosis
D MacArthu8r VIDEO presentation, Scripps Institute, Future of Genomic Medicine 2017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
BB Cummings et al, Sci Trans Med, April 19, 2017
Searching for a diagnosis: a network of doctors tries to solve medical mysteries
A Gorman, Stat News, April 20, 2017
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
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
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