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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2011
Pynciau:
Article
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg