相关实验视频

Updated: Apr 30, 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

8.6K

阿塔克西亚 (ataxia telangiectasia):来自尼泊尔的一个罕见病例报告

Apil Upreti1, Prince Mandal1, Amit Upreti2

  • 1Maharajgunj Medical Campus, Tribhuvan University, Institute of Medicine, Maharajgunj.

Annals of medicine and surgery (2012)
|April 5, 2024
PubMed
概括

缺氧电脉切开症 (A-T) 是一种罕见的神经退行性疾病. 早期诊断和综合管理,包括遗传咨询,对于A-T患者至关重要,因为其复杂性和不良预后.

关键词:
亚达克西亚 (ataxia) 是一种对电脉切割 (telangiectasia) 的作用.自体逆行性疾病 自体逆行性疾病小脑缩的缩小的阿尔法-胎蛋白升高.眼皮外角切除术是指眼皮外角切除术.

更多相关视频

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.6K
Author Spotlight: AI-Driven Trypanosome Species Detection from Microscopic Images08:20

Author Spotlight: AI-Driven Trypanosome Species Detection from Microscopic Images

Published on: October 27, 2023

1.4K

相关概念视频

Aneurysm II: Clinical Manifestations and Diagnostic Studies01:21

Aneurysm II: Clinical Manifestations and Diagnostic Studies

Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...
589