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全外显子组测序在危重症新生儿单基因遗传病中的临床应用
OBJECTIVE: To explore the value and significance of the clinical application of whole exome sequencing (WES) in monogenic hereditary disorders in critically ill newborns. METHODS: The critically ill newborns in the neonatal intensive care unit with suspected hereditary diseases or unclear clinical d...
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| Izdano u: | Zhongguo Dang Dai Er Ke Za Zhi |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
中国当代儿科杂志编辑部
2019
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7389093/ https://ncbi.nlm.nih.gov/pubmed/31315761 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2019.07.005 |
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