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Updated: May 20, 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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由安大略省性遗传检测计划进行性遗传检测的临床实施和结果

Tugce B Balci1,2, Laila C Schenkel3,4, Cassandra Rastin3

  • 1Division of Genetics, Department of Paediatrics, Western University, London, ON, Canada.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
|April 13, 2025
PubMed
概括

安大略省遗传检测计划 (OEGTP) 使用下一代测序面板实现了20.8%的诊断产量. 这项倡议标准化了基因测试,并改善了患者的临床效用.

关键词:
诊断 诊断 诊断 诊断 诊断是一种.这是下一代测序.

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Arteries of the Lower Limbs01:24

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Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
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