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浏览/检索结果: 共5条，第1-5条 帮助 已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 Gene mutation and clinical analysis of nephronophthisis diagnosed using whole exome sequencing: Experience from China 期刊论文 CLINICAL NEPHROLOGY, 2019, 卷号: 92, 期号: 2 作者:  Tang, Xiaoshan;  Xu, Hong;  Shen, Qian;  Li, Guoming;  Rao, Jia 收藏  |  浏览/下载：28/0  |  提交时间：2019/12/05 whole exome sequencing  nephronophthisis  NPHP3   Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system 期刊论文 Clinical Genetics, 2019 作者:  Rao J.;  Liu X.;  Mao J.;  Tang X.;  Shen Q. 收藏  |  浏览/下载：8/0  |  提交时间：2019/12/11 chronic kidney disease (CKD)  congenital anomalies of the kidney and urinary tract (CAKUT)  genetics  nephronophthisis (NPHP)  polycystic kidney disease PKD  renal disease  singleton-WES  steroid-resistant nephrotic syndrome (SRNS)  targeted gene sequence (TGS)  trio approach for WES (trio-WES)  whole-exome sequence (WES)   High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients 期刊论文 NEPHROLOGY, 2016, 卷号: 21, 页码: 209-216 作者:  Sun, Liangzhong[1];  Tong, Huajuan[1,4];  Wang, Haiyan[3];  Yue, Zhihui[1];  Liu, Ting[1] 收藏  |  浏览/下载：15/0  |  提交时间：2019/04/24 infantile nephronophthisis  NPHP2  NPHP3   Loss of Glis2/NPHP7 causes kidney epithelial cell senescence and suppresses cyst growth in the Kif3a mouse model of cystic kidney disease 期刊论文 KIDNEY INTERNATIONAL, 2016, 卷号: 89, 期号: 6 作者:  Lu, Dongmei;  Rauhauser, Alysha;  Li, Binghua;  Ren, Chongyu;  McEnery, Kayla 收藏  |  浏览/下载：7/0  |  提交时间：2019/12/05 cystic kidney disease  DNA damage  Kif3a  nephronophthisis  senescence   The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 期刊论文 NATURE GENETICS, 2006, 卷号: 38, 期号: 6, 页码: 674-681 作者:  Sayer, JA;  Otto, EA;  O'Toole, JF;  Nurnberg, G;  Kennedy, MA 收藏  |  浏览/下载：24/0  |  提交时间：2015/07/22