Last Posted: Jul 26, 2018
- 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 - Machine Learning
NIH Catalyst, July 2018 - Protein affected by rare Parkinson’s mutation may lurk behind many cases of the disease
NIH News, July 25, 2018 - FDA Issues Set of Gene Therapy Draft Guidances
Global Genes, July 11, 2018 - Hereditary Hemochromatosis
CDC, July 2018 - When you have a serious hereditary disease, who has a right to know
S Raviv, Mosaic, Wellcome, July 11, 2018 - Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
AD Kline et al, Nat Rev Genetics, July 11, 2018 - How Routine Genomic Medicine 'Will Change People's Lives'
P Russell, Medscape, July 11, 2018
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