利用外显组测序对不明原因智障家系遗传背景的研究
81400872
2014
H0902.意识障碍与认知功能障碍
孙昱
青年科学基金项目
副研究员
上海交通大学
22万元
智力障碍;突变;外显组测序
2015-01-01到2017-12-31
- 中英文摘要
- 结题摘要
- 结题报告
- 项目成果
- 项目参与人
查看更多信息请先登录或注册
查看更多信息请先登录或注册
查看更多信息请先登录或注册
| 序号 | 标题 | 类型 | 作者 |
|---|---|---|---|
| 1 | Novel noncontiguous duplications identified with a comprehensive mutation analysis in the DMD gene by DMD gene-targeted sequencing | 期刊论文 | Yan Xu;Huanhuan Wang;Bing Xiao;Wei Wei;Yu Liu;Hui Ye;Xiaomin Ying;Yingwei Chen;Xiaoqing Liu;Xing Ji;Yu Sun |
| 2 | Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities | 期刊论文 | Bing Xiao;Wenjuan Qiu;Xing Ji;Xiaoqing Liu;Zhuo Huang;Huili Liu;Yanjie Fan;Yan Xu;Yu Liu;Hui Yie;Wei Wei;Hui Yan;Zhuwen Gong;Lixiao Shen;Yu Sun |
| 3 | Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia | 期刊论文 | Sun Yu;Hu Guorui;Luo Jihang;Fang Di;Yu Yongguo;Wang Xiang;Chen Jing;Qiu Wenjuan |
| 4 | Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. | 期刊论文 | Sun Yu;Hu Guorui;Liu Huili;Zhang Xia;Huang Zhuo;Yan Hui;Wang Lili;Fan Yanjie;Gu Xuefan;Yu Yongguo |
查看更多信息请先登录或注册
趋势报告
