相关实验视频

Updated: May 13, 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

8.5K

在患有早期的儿科中基因变异分析:识别新型变异

Pooyan Alizadeh1, Armin Jahangiri Babadi1, Nemat Ghadiri1

  • 1Department of Neurosurgery, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

Practical laboratory medicine
|April 15, 2025
PubMed
概括

在早期发作的患者中,全外体测序发现了两种新型基因变异,AP3B2和PIGB. 这些遗传发现对于推进诊断和个性化治疗策略至关重要.

关键词:
是一种病.基因分析 基因分析儿科 - 儿科整体外基因组测序的测序

更多相关视频

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.4K
Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.1K

相关概念视频

Arteries of the Lower Limbs01:24

Arteries of the Lower Limbs

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...
167
Seizures: Classification01:13

Seizures: Classification

Epilepsy is primarily characterized by unpredictable seizures, either provoked by an identifiable factor, such as injury or illness, or unprovoked, occurring spontaneously without apparent cause.
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
285