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Updated: Jan 16, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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一个与新生儿遗传球细胞瘤相关的新ANK1框架转移突变:一个病例报告

Xin Qing1, Jimo Zhu2, Xiaoshi Zhu1

  • 1Department of Pediatrics, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.

Frontiers in pediatrics
|October 6, 2025
PubMed
概括

遗传球球细胞病 (HS) 在婴儿中由于异型症状而难以诊断. 基因分析对于早期识别HS至关重要,即使是新突变.

关键词:
一个ANK1基因.WES整体外基因组测序框架移位突变突变是什么?遗传性球球细胞分裂.新生儿们的新生儿

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Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes

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