RNF115在左右不对称建立及内脏异位综合征发生中作用机制的研究
序号 | 标题 | 类型 | 作者 |
---|---|---|---|
1 | A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication | 期刊论文 | Hong Nanchao;Zhang Erge;Wang Qingjie;Zhang Xiaoqing;Li Fen;Fu Qihua;Xu Rang;Yu Yu;Chen Sun;Xu Yuejuan;Sun Kun |
2 | Variants in a cis-regulatory element of TBX1 in conotruncal heart defect patients impair GATA6-mediated transactivation | 期刊论文 | Li Tingting;Jiang Xuechao;Liu Sijie;Fu Qihua;Li Fen;Chen Sun;Sun Kun;Xu Rang;Xu Yuejuan |
3 | 内脏异位综合征患儿中DNAI1和DNAH5基因编码区突变分析 | 期刊论文 | 徐蒙蒙;徐月娟;陈笋;李奋;孙锟 |
4 | Novel mutations of the SRF gene in Chinese sporadic conotruncal heart defect patients | 期刊论文 | Xu Mengmeng;Xu Yuejuan;Chen Sun;Lu Yanan;Li Fen;Sun Kun |