The National Institutes of Health undiagnosed diseases program
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Pediatrics, Perinatology and Child Health
Reference8 articles.
1. The NIH Undiagnosed Diseases Program: lessons learned.;Gahl;JAMA,2011
2. The NIH Undiagnosed Diseases Program: insights into rare diseases.;Gahl;Genet Med,2013
3. A general framework for estimating the relative pathogenicity of human genetic variants.;Kircher;Nat Genet,2014
4. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders.;Yang;N Engl J Med,2013
5. Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD).;Pierson;Neuromuscul Disord,2013
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