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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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| Publicat a: | J Community Genet |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Springer Berlin Heidelberg
2019
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| Matèries: | |
| Accés en línia: | 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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