相关实验视频

Updated: Aug 1, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

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评估一种新的新生儿查方法:结合基因和生化查

Bin Yu1, Yuqi Yang1, Lingna Zhou1

  • 1Department of Medical Genetics, Changzhou Maternal and Child Health Hospital, Changzhou Medical Center of Nanjing Medical University, Changzhou, Jiangsu Province, China.

Archives of medical research
|January 31, 2024
PubMed
概括

使用新生儿基因组测序 (nGS) 和传统生化查 (TBS) 的联合查为新生儿查提供了最有效的方法,显著改善了遗传疾病的早期诊断.

关键词:
生物化学查 生物化学查新生儿基因组测序 新生儿基因组测序新生儿查 新生儿查这是下一代测序.协奏式质谱测量 质谱测量

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Biochemical Measurement of Neonatal Hypoxia13:13

Biochemical Measurement of Neonatal Hypoxia

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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相关概念视频

Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...