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Updated: Jul 23, 2026

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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对结构正常胎儿的标准产前检测进行外体测序的增量产量:系统性审查和元分析

A Sotiriadis1, E Demertzidou1, A Ververi2

  • 1Second Department of Obstetrics and Gynecology, Faculty of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
|February 17, 2025
PubMed
概括

产前外体序列测试 (PES) 可以在1.6%的胎儿中识别出正常型的遗传变异. 大多数已识别的变种都是de novo,导致严重疾病的可能性为0.5%.

关键词:
外体序列的外体序列序列.胎儿 胎儿 胎儿 胎儿这是一个元分析.作为一个单一的物质,它是单一的.单基因疾病是一种单基因疾病.

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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform09:30

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相关概念视频

Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...