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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2011
Konular:
Article
Online Erişim: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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller