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The psychosocial and service delivery impact of genomic testing for inherited retinal dystrophies

Next-generation sequencing (NGS) provides diagnostic information for many rare conditions. The evolution of NGS for panel, exome, and genome testing is set to be the platform for transforming genomic diagnosis in the National Health Service (NHS). Inherited retinal dystrophies (IRDs) are a highly ge...

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Detalhes bibliográficos
Publicado no:J Community Genet
Main Authors: McVeigh, Eleanor, Jones, Harriet, Black, Graeme, Hall, Georgina
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6591333/
https://ncbi.nlm.nih.gov/pubmed/30680631
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12687-019-00406-x
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