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Updated: Jun 8, 2025

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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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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对重症婴儿遗传诊断的多维和纵向影响

Monica H Wojcik1,2, Maya C Del Rosario1,2, Henry A Feldman3

  • 1Division of Newborn Medicine.

Pediatrics
|November 8, 2024
PubMed
概括

父母非常重视NICU婴儿的遗传诊断,但随着时间的推移,这一重要性正在减弱. 基因诊断并没有显著改善婴儿的生活质量,这表明需要更好的支持.

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