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CORC

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TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model 期刊论文
GENETICS IN MEDICINE, 2019, 卷号: 21, 期号: 7
作者:  Liu, Jiaqi;  Wu, Nan;  Yang, Nan;  Takeda, Kazuki;  Chen, Weisheng
收藏  |  浏览/下载：63/0  |  提交时间：2019/12/05
TBX6-associated congenital scoliosis as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model. 期刊论文
Genetics in medicine : official journal of the American College of Medical Genetics, 2019
作者:  Jiaqi Liu;  Nan Wu;  Nan Yang;  Kazuki Takeda;  Weisheng Chen
收藏  |  浏览/下载：47/0  |  提交时间：2019/12/13
TBX6-associated congenital scoliosis as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model 期刊论文
Genetics in Medicine, 2019
作者:  Jiaqi Liu;  Nan Wu;  Deciphering Disorders Involving Scoliosis and COmorbidities study, Nan Yang;  Kazuki Takeda;  Weisheng Chen
收藏  |  浏览/下载：40/0  |  提交时间：2019/12/13
Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease 期刊论文
2019
作者:  Li Jiacheng;  Lu Chaoxia;  Wu Wei;  Liu Yaping;  Wang Rongrong
收藏  |  浏览/下载：19/0  |  提交时间：2020/01/03
A 105kb interstitial insertion in the Xq27.1 palindrome from pseudoautosomal region PAR1 causes a novel X-linked recessive compound phenotype 期刊论文
2019, 卷号: 17, 期号: 1, 页码: 138
作者:  Si, Nuo;  Meng, Xiaolu;  Zhao, Zhen;  Xia, Weibo;  Zhang, Xue
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model 期刊论文
2019, 卷号: 21, 期号: 7, 页码: 1548-1558
作者:  Liu, Jiaqi;  Wu, Nan;  Yang, Nan;  Takeda, Kazuki;  Chen, Weisheng
收藏  |  浏览/下载：33/0  |  提交时间：2020/01/03
A novel MAF missense mutation leads to congenital nuclear cataract by impacting the transactivation of crystallin and noncrystallin genes 期刊论文
2019, 卷号: 692, 页码: 113-118
作者:  Si, Nuo;  Song, Zixun;  Meng, Xiaolu;  Li, Xinru;  Xiao, Wei
收藏  |  浏览/下载：5/0  |  提交时间：2020/01/03
A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family 期刊论文
2018, 卷号: 19, 期号: 1, 页码: 190
作者:  Song, Zixun;  Si, Nuo;  Xiao, Wei
收藏  |  浏览/下载：13/0  |  提交时间：2020/01/03
Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies 期刊论文
2018, 卷号: 16, 期号: 1, 页码: 241
作者:  Lu, Chaoxia;  Wu, Wei;  Liu, Fang;  Yang, Kunqi;  Li, Jiacheng
收藏  |  浏览/下载：17/0  |  提交时间：2020/01/03
FUNCTIONAL CHARACTERIZATION OF NOVEL SLC5A2 VARIANTS IN CHINESE PATIENTS WITH FAMILIAL RENAL GLUCOSURIA 会议论文
NEPHROLOGY DIALYSIS TRANSPLANTATION, 2018-05-01
作者:  Xu, Lubin;  Nuo, Si;  Zhao, Yumo;  Tian, Dongli;  Tang, Xueqing
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03

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