Survey on patients with undiagnosed diseases in Japan: potential patient numbers benefiting from Japan’s initiative on rare and undiagnosed diseases (IRUD)
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics (clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13023-018-0943-y.pdf
Reference24 articles.
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3. Beaulieu CL, Majewski J, Schwartzentruber J, Samuels ME, Fernandez BA, Bernier FP, et al. FORGE Canada consortium: outcomes of a 2-year national rare-disease gene-discovery project. Am J Hum Genet. 2014;94:809–17.
4. Firth HV, Wright CF, Study DDD. The deciphering developmental disorders (DDD) study. Dev Med Child Neurol. 2011;53:702–3.
5. Baynam G, Broley S, Bauskis A, Pachter N, McKenzie F, Townshend S, et al. Initiating an undiagnosed diseases program in the Western Australian public health system. Orphanet J Rare Dis. 2017;12:83.
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