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Updated: Jan 7, 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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在患有GDD/iD的儿童中,外基因组测序和染色体微阵列的诊断和临床实用性:元分析

Maliwan Tengsujaritkul1, Orawan Louthrenoo1, Narueporn Likhitweerawong1

  • 1Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.

Annals of medicine
|December 31, 2025
PubMed
概括

整体外基因组测序 (WES) 为全球发育迟缓/智力障碍 (GDD/ID) 提供了比染色体微组 (CMA) 更高的诊断产量. 推WES作为一线基因测试,用于儿童无法解释的GDD/ID.

关键词:
诊断收益率是一个问题.外基因组测序是指外基因组的测序.基因检测 基因检测是指基因检测.全球发展延迟智力障碍 智力障碍是一种智力障碍.

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