A Toolkit for Genetics Providers in Follow-up of Patients with Non-Diagnostic Exome Sequencing

There are approximately 7,000 rare diseases affecting 25–30 million Americans, with 80% estimated to have a genetic basis. This presents a challenge for genetics practitioners to determine appropriate testing, make accurate diagnoses, and conduct up-to-date patient management. Exome sequencing is a...

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Detalhes bibliográficos
Publicado no:J Genet Couns
Main Authors: Zastrow, Diane B., Kohler, Jennefer N., Bonner, Devon, Reuter, Chloe M., Fernandez, Liliana, Grove, Megan E., Fisk, Dianna G., Yang, Yaping, Eng, Christine M., Ward, Patricia A., Bick, David, Worthey, Elizabeth A., Fisher, Paul G., Ashley, Euan A., Bernstein, Jonathan A., Wheeler, Matthew T.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7385984/
https://ncbi.nlm.nih.gov/pubmed/30964584
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jgc4.1119
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