相关实验视频

Updated: May 29, 2025

Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay
10:57

Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay

Published on: August 14, 2018

10.6K

通过基因组测序和拼接试验,识别结节性表皮溶解牛皮的深层内在变异

Fuying Chen1, Ruoqu Wei2, Yumeng Wang2

  • 1Department of Dermatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.

NPJ genomic medicine
|February 6, 2025
PubMed
概括

基因组测序发现了由外体序列测序遗漏的衰退性结节性表皮溶解 (JEB) 病例中的深层内基因变异. 这凸显了全基因组分析对于诊断罕见遗传疾病的重要性.

更多相关视频

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models09:58

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models

Published on: December 9, 2016

13.6K
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

25.8K

相关概念视频

Long-patch Base Excision Repair01:02

Long-patch Base Excision Repair

Since the discovery of the two BER pathways, there has been a debate about how a cell chooses one pathway over the other and the factors determining this selection. Numerous in vitro experiments have pointed out multiple determinants for the sub-pathway selection. These are:
7.0K