An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes
Le Quesne Stabej, Polona, James, Chela, Ocaka, Louise, Tekman, Mehmet, Grunewald, Stephanie, Clement, Emma, Stanescu, Horia C., Kleta, Robert, Morrogh, Deborah, Calder, Alistair, Williams, Hywel J., BVolume:
12
Language:
english
Journal:
Orphanet Journal of Rare Diseases
DOI:
10.1186/s13023-017-0582-8
Date:
December, 2017
File:
PDF, 1.45 MB
english, 2017