Last Posted: Aug 10, 2018
- 35 Years & Growing: Personal Stories of Patient Advocacy
National Organization for Rare Diseases, 2018 - A Road Map for Evaluation and Appropriate Implementation of Genome Sequencing to Improve Population Health
MJ Khoury, CDC Blog, August 2, 2018 - Clinical exome sequencing in France and Quebec: what are the challenges? What does the future hold?
Bertier Gabrielle et al. Life sciences, society and policy 2018 Aug 14(1) 17 - She had a lot of rashes, but don’t all kids?
SG Boodman, Washington Post, July 2018 - A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.
Papa Riccardo et al. Orphanet journal of rare diseases 2017 12(1) 167 - Privacy-Preserving Linkage of Genomic and Clinical Data Sets.
Baker Dixie et al. IEEE/ACM transactions on computational biology and bioinformatics 2018 Jul - Repositioning Drugs for Rare Immune Diseases: Hopes and Challenges for a Precision Medicine.
Valencic Erica et al. Current medicinal chemistry 2018 25(24) 2764-2782 - Oral Plasma Kallikrein Inhibitor for Prophylaxis in Hereditary Angioedema.
Aygören-Pürsün Emel et al. The New England journal of medicine 2018 Jul (4) 352-362 - Analysis of First-Year Twitter Metrics of a Rare Disease Community for Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN) on Social Media: #BPDCN.
Pemmaraju Naveen et al. Current hematologic malignancy reports 2017 Dec 12(6) 592-597 - Expanded Carrier Screening: A Rational Approach to Screening for Rare Diseases.
Norton Mary E et al. Obstetrics and gynecology 2017 130(2) 260-261
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