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Updated: Jun 19, 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

儿科神经疾病的基因组探索:一个案例系列

Naresh Tayade1, Gautham Manoj2, Akshay Kewat2

  • 1Department of Pediatrics, Dr Panjabrao Deshmukh Medical College Amravati and Life Care Hospitals, Amaravati, 444601, India.

Journal of medical case reports
|January 31, 2025
PubMed
概括

这项研究使用外基因组测序研究了印度儿童罕见的儿科神经疾病. 确定了EIF2B2中的一种致病变体,将其与神经乱性恶性综合征联系起来,并与观察到的表型相匹配.

关键词:
关节位是关节位.自闭症 自闭症 自闭症双边白内障是双边的白内障.案例报告案例报告神经系统疾病 神经系统疾病罕见的情况 罕见的情况

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Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

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Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.