相关实验视频

Updated: Feb 28, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

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

Published on: June 6, 2025

1.6K

波兰儿科患者的分子分析:使用下一代测序的单中心诊断经验

Beata Chałupczyńska1, Elżbieta Ciara1, Paulina Halat-Wolska1

  • 1Department of Medical Genetics, The Children's Memorial Health Institute, Member of the European Reference Network ITHACA, 04-730 Warsaw, Poland.

Genes
|February 27, 2026
PubMed
概括

下一代测序 (NGS) 通过识别遗传变异来有效诊断儿科. 这种基因测试为患有不明原因的儿童的预后和治疗计划提供了关键的见解.

关键词:
德拉维特综合征是什么?德拉维特综合征是什么发育性和性脑病变.是一种.基因检测 基因检测是指基因检测.分子形状的分子形状.这是下一代测序.儿科人口中的儿科人口.罕见疾病是一种罕见的疾病.

更多相关视频

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

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

9.2K
Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy08:26

Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy

Published on: October 19, 2021

6.3K

相关概念视频

Epilepsy and Seizures: Overview01:24

Epilepsy and Seizures: Overview

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...
1.5K