相关实验视频
Updated: May 21, 2025

Characterization of a Novel Human Organotypic Retinal Culture Technique
Published on: June 9, 2021
病例报告:在一个患有亚当斯-奥利弗综合征的新生儿身上发现了一种新的DLL4变异
Yanping Huang1, Jin Wang1, Lingkong Zeng1
1Department of Neonatology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, Hubei, China.
亚当斯-奥利弗综合征是一种罕见的遗传疾病. 一份新的病例报告确定DLL4中的de novo变体是原因,强调了这种情况的遗传多样性.
科学领域:
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
- 临床医学 临床医学
背景情况:
- 亚当斯-奥利弗综合征 (AOS) 是一种罕见的先天性疾病,具有不同的临床表现.
- 已经确定了六种AOS亚型,具有不同的遗传模式 (自体主导或衰退).
- AOS可能涉及多系统异常,特别是心血管缺陷和先天性telangiectatica cutis marmorata.
更多相关视频
07:50A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
12:09A Novel High-resolution In vivo Imaging Technique to Study the Dynamic Response of Intracranial Structures to Tumor Growth and Therapeutics
Published on: June 16, 2013
相关概念视频
Case Studies
Observational Studies
There are three types of observational studies – Prospective, retrospective, and cross-sectional.
Prospective Study
Prospective studies, also known as longitudinal or cohort studies, are carried out by collecting future data from groups sharing similar characteristics. One...
Clinical Trials
There are four phases in a clinical trial. A phase one...
Data Collection by Experiments
An example of the experimental method is a public...
Clinical Trials: Overview
Data Collection by Observations
An astronomer viewing the motion and brightness of stars in the sky and recording the data is an example of observational data collection. A botanist recording...