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A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.

Boycott, Kym M; Hartley, Taila; Biesecker, Leslie G; Gibbs, Richard A; Innes, A Micheil; Riess, Olaf; Belmont, John; Dunwoodie, Sally L; Jojic, Nebojsa; Lassmann, Timo; Mackay, Deborah; Temple, I Karen; Visel, Axel; Baynam, Gareth.
Cell; 177(1): 32-37, 2019 03 21.
Artigo em Inglês | MEDLINE | ID: mdl-30901545
The introduction of exome sequencing in the clinic has sparked tremendous optimism for the future of rare disease diagnosis, and there is exciting opportunity to further leverage these advances. To provide diagnostic clarity to all of these patients, however, there is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate these to clinical care.
Selo DaSilva