相关实验视频

Updated: Sep 11, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

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

Published on: August 20, 2019

13.8K

非隔离的法洛特四分法 (TOF+):外基因组测序功效和表型扩展

Julia Volpi1, Xiaonan Zhao1,2, Nichole Owen1,2

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.

European journal of human genetics : EJHG
|August 12, 2025
PubMed
概括

临床外体序列测定 (cES) 是有效的诊断Fallot四分法加 (TOF+) 条件,识别更多的遗传原因比标准面板. 这项研究强调了cES作为TOF+遗传诊断的宝贵工具.

更多相关视频

In Vivo Modeling of the Morbid Human Genome using Danio rerio12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.8K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.9K

相关概念视频

Mitral Stenosis II: Clinical features and Diagnostic Tests01:23

Mitral Stenosis II: Clinical features and Diagnostic Tests

Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
37