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Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants
Genetic diseases are a leading cause of death in infants in the intensive care setting; therefore, rapid and accurate genetic diagnosis is desired. To validate 24-h trio-exome sequencing (TES), samples from probands and their parents were processed by the AmpliSeq /Ion S5XL platform in a hospital cl...
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| 出版年: | NPJ Genom Med |
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| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group UK
2020
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7200743/ https://ncbi.nlm.nih.gov/pubmed/32411386 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-020-0129-0 |
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