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Updated: Jul 9, 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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单一性疾病和中枢神经系统异常:前性研究,系统性审查和元分析

Gillian V Blayney1, Eoghan Laffan2, Preethi A Jacob3

  • 1Fetal Medicine Department, Royal Jubilee Maternity Service, Belfast Health and Social Care Trust, Belfast, UK.

Prenatal diagnosis
|December 6, 2023
PubMed
概括

与标准方法相比,产前外体序列测序显著改善了胎儿中枢神经系统 (CNS) 异常的诊断. 这种先进的基因测试提供了32%的更高的诊断产量,特别是在复杂的病例.

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