CORC

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CORC

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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
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
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
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
A Case of Infantile Nephronophthisis with the onset of liver dysfunction 会议论文
作者:  Liu, H.;  Wang, Y.;  Li, G.;  Shen, Q.;  Sun, L.
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/06
Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy 期刊论文
human mutation, 2014
Beck, Bodo B.; Phillips, Jennifer B.; Bartram, Melte P.; Wegner, Jeremy; Thoenes, Michaele; Pannes, Andrea; Sampson, Josephina; Heller, Raoul; Goebel, Heike; Koerber, Friederike; Neugebauer, Antje; Hedergott, Andrea; Nuernberg, Gudrun; Nuernberg, Peter; Thiele, Holger; Altmueller, Janine; Toliat, Mohammad R.; Staubach, Simon; Boycott, Kym M.; Valente, Enza Maria; Janecke, Andreas R.; Eisenberger, Tobias; Bergmann, Carsten; Tebbe, Lars; Wang, Yang; Wu, Yundong; Fry, Andrew M.; Westerfield, Monte; Wolfrum, Uwe; Bolz, Hanno J.
收藏  |  浏览/下载：4/0  |  提交时间：2015/11/11
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

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