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Updated: Jun 24, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

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针对儿童早期全球发育迟缓的遗传检测

Jiamei Zhang1, Yiran Xu2, Yun Liu3

  • 1Department of Rehabilitation Medicine, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

JAMA network open
|June 5, 2024
PubMed
概括

使用三元整体外基因组测序和拷贝数变异测序的基因测试显著提高了全球发育迟缓 (GDD) 的诊断率. 这种方法还揭示了GDD的致病性和潜在的治疗点,如多巴胺基通路.

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Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

Published on: August 25, 2014

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