通过分析LOH探究智力障碍的致病基因变异
81500972
2015
H0901.神经系统发育与代谢异常
范燕洁
青年科学基金项目
副研究员
上海交通大学
18万元
智力障碍;全基因组芯片扫描;新一代测序;杂合性丢失;遗传变异
2016-01-01到2018-12-31
- 中英文摘要
- 结题摘要
- 结题报告
- 项目成果
- 项目参与人
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| 序号 | 标题 | 类型 | 作者 |
|---|---|---|---|
| 1 | Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development | 期刊论文 | Fan Yanjie;Zhang Xia;Wang Lili;Wang Ruifang;Huang Zhuo;Sun Yu;Yao Ruen;Huang Xiaodong;Ye Jun;Han Lianshu;Qiu Wenjuan;Zhang Huiwen;Liang Lili;Gu Xuefan;Yu Yongguo |
| 2 | Rare copy number variations in a Chinese cohort of autism spectrum disorder | 期刊论文 | Fan Yanjie;Du Xiujuan;Liu Xin;Li Fei;Yu Yongguo |
| 3 | De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism | 期刊论文 | Fan Yanjie;Yin Wu;Hu Bing;Kline Antonie D.;Zhang Victor Wei;Liang Desheng;Sun Yu;Wang Lili;Tang Sha;Powis Zoe;Li Lei;Yan Huifang;Shi Zhen;Yang Xiaoping;Chen Yinyin;Wang Jingmin;Jiang Yuwu;Gu Xuefan;Yu Yongguo;Wu Ling-qian |
| 4 | Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions. | 期刊论文 | Fan Yanjie;Wu Yanming;Wang Lili;Wang Yu;Gong Zhuwen;Qiu Wenjuan;Wang Jingmin;Zhang Huiwen;Ji Xing;Ye Jun;Han Lianshu;Jin Xingming;Shen Yongnian;Li Fei;Xiao Bing;Liang Lili;Zhang Xia;Liu Xiaomin;Gu Xuefan;Yu Yongguo |
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