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全外显子测序技术在危重症新生儿遗传病中的应用价值

OBJECTIVE: To study the application value of whole exome sequencing (WES) in critically ill neonates with inherited diseases. METHODS: A total of 66 critically ill neonates with suspected inherited diseases or unclear clinical diagnosis who were admitted to the neonatal intensive care unit were enro...

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Bibliografiske detaljer
Udgivet i:Zhongguo Dang Dai Er Ke Za Zhi
Format: Artigo
Sprog:Inglês
Udgivet: 中国当代儿科杂志编辑部 2020
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7735930/
https://ncbi.nlm.nih.gov/pubmed/33327995
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2007109
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