Last Posted: Oct 12, 2018
- Rare Disease 2019 Information Packet
NIH, October 2018 - Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease
K Splinter et al, NEJM, October 10, 2018 - Finding Answers for Patients With Rarest of Rare Diseases
Associated Press, New York Times, October 11, 2018 - Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases.
Vatier Camille et al. Current medical research and opinion 2018 Oct 1-22 - Opening the "black box" of informed consent appointments for genome sequencing: a multisite observational study.
Sanderson Saskia C et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct - A new era of patient focused innovation
NORD, Rare Diseases summit, October 15-16,2018 - The Effect of a Pediatric Rare Disease on Subscriber Retention Rates for Commercial Health Insurers in the United States.
Kuester Melanie K et al. Journal of managed care & specialty pharmacy 2018 Sep 1-9 - Wellcome Sanger Institute at 25: how the genomic revolution is changing medicine
Wellcome Sanger, September 2018 - [Family Therapeutic Trajectories: rare hereditary diseases involving long-term suffering].
Aureliano Waleska de Araújo et al. Ciencia & saude coletiva 2018 Feb 23(2) 369-380 - Integrated genetic and pharmacologic interrogation of rare cancers.
Hong Andrew L et al. Nature communications 2016 711987
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