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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
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On-line přístup: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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