The NIH Undiagnosed Diseases Program: Insights into Rare Diseases

PURPOSE: This report describes the NIH Undiagnosed Diseases Program (UDP), details the Program's application of genomic technology to establish diagnoses, and details the Program's success rate over its first two years. METHODS: Each accepted study participant was extensively phenotyped. A...

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Detalhes bibliográficos
Main Authors: Gahl, William A., Markello, Thomas C., Toro, Camilo, Fajardo, Karin Fuentes, Sincan, Murat, Gill, Fred, Carlson-Donohoe, Hannah, Gropman, Andrea, Pierson, Tyler Mark, Golas, Gretchen, Wolfe, Lynne, Groden, Catherine, Godfrey, Rena, Nehrebecky, Michele, Wahl, Colleen, Landis, Dennis M. D., Yang, Sandra, Madeo, Anne, Mullikin, James C, Boerkoel, Cornelius F., Tifft, Cynthia J., Adams, David
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4098846/
https://ncbi.nlm.nih.gov/pubmed/22237431
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.0b013e318232a005
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