A modular approach to disease registry design: Successful adoption of an internet-based rare disease registry
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22154/fullpdf
Reference19 articles.
1. Initiating a Human Variome Project Country Node;Alaama;Hum Mutat,2011
2. A Bioinformatics Framework for plant pathologists to deliver global food security outcomes;Bellgard;Australasian Plant Pathology,2012
3. Awakening Australia to Rare Diseases: Symposium report and preliminary outcomes;Dawkins;Orphanet Journal of Rare Diseases,2011
4. Mutation Nomenclature Extensions and Suggestions to Describe Complex Mutations: A Discussion;den Dunnen;Hum Mutat,2000
5. Registries for robust evidence;Dreyer;JAMA,2009
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