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Updated: Jul 14, 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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在不明原因的智力障碍下下一代测序

Sapna Sandal1, Ishwar Chander Verma1, Sunita Bijarnia Mahay1

  • 1Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

Indian journal of pediatrics
|October 7, 2023
PubMed
概括

下一代测序 (NGS) 为印度患者的智力障碍 (ID) 提供了高的诊断产量. 这种基因测试方法可以识别致病变异,指导临床管理和家庭的生殖选择.

关键词:
自体逆行性智力障碍 自体逆行性智力障碍发育迟缓 发展迟缓智力障碍 智力障碍是一种智力障碍.下一代测序测序是什么

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