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Updated: Jul 25, 2025

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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巴基斯坦人口中遗传性神经肌肉疾病的频谱

Fizza Akbar1, Shafaq Muhammad Saleem2, Ehtesham Khalid3

  • 1Division of Women and Child Health, The Aga Khan University, Karachi, Pakistan.

American journal of medical genetics. Part A
|June 27, 2023
PubMed
概括

这项研究调查了巴基斯坦的遗传神经肌肉疾病 (NMD),在一半以上的患者中确定了遗传原因. 临床相关性和家庭研究改善了这些复杂遗传疾病的诊断率.

关键词:
巴基斯坦 巴基斯坦 巴基斯坦.遗传学 遗传学 遗传学 是一个遗传神经肌肉疾病 遗传神经肌肉疾病神经学 神经学 神经学

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In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration06:35

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration

Published on: June 15, 2018

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