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Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing

BACKGROUND: Genetic screening to identify carriers of autosomal recessive diseases has become an integral part of routine prenatal care. In spite of the rapid growth of known mutations, most current screening programs include only a small subset of these mutations, and are performed using diverse mo...

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Detalhes bibliográficos
Publicado no:BMC Med Genomics
Main Authors: Gal, Moran, Khermesh, Khen, Barak, Michal, Lin, Min, Lahat, Hadas, Reznik Wolf, Haike, Lin, Michael, Pras, Elon, Levanon, Erez Y.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4865987/
https://ncbi.nlm.nih.gov/pubmed/27175728
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-016-0184-7
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