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CORC

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Complex ATP7B mutation patterns in Wilson disease and a evaluation of a yeast model for functional analysis of the individual variant 会议论文
作者:  Chen, Yongpeng;  Li, Xiaojin;  Zhang, Wei;  Zhou, Donghu;  Lv, Tingxia
收藏  |  浏览/下载：37/0  |  提交时间：2019/12/05
Whole-exome sequencing reveals SALL4 variants in premature ovarian insufficiency: an update on genotype-phenotype correlations 期刊论文
HUMAN GENETICS, 2019, 卷号: 138, 期号: 1
作者:  Wang, Xiuxia;  Wang, Qiqi;  Li, Da;  Cai, Baozhu;  Chen, Qing
收藏  |  浏览/下载：25/0  |  提交时间：2019/12/05
Evacetrapib reduces pre beta-1 HDL in patients with atherosclerotic cardiovascular disease or diabetes 期刊论文
ATHEROSCLEROSIS, 2019, 卷号: 285
作者:  Chen, Xueying;  Jiang, Xian-Cheng;  Ge, Junbo;  Chen, Haozhu;  Chen, Yunqin
收藏  |  浏览/下载：47/0  |  提交时间：2019/12/05
Novel CFAP43 and CFAP44 mutations cause male infertility with multiple morphological abnormalities of the sperm flagella (MMAF) 期刊论文
REPRODUCTIVE BIOMEDICINE ONLINE, 2019, 卷号: 38, 期号: 5
作者:  Wu, Huan;  Li, Weiyu;  He, Xiaojin;  Liu, Chunyu;  Fang, Youyan
收藏  |  浏览/下载：29/0  |  提交时间：2019/12/05
Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella 期刊论文
JOURNAL OF MEDICAL GENETICS, 2019, 卷号: 56, 期号: 2
作者:  He, Xiaojin;  Li, Weiyu;  Wu, Huan;  Lv, Mingrong;  Liu, Wangjie
收藏  |  浏览/下载：39/0  |  提交时间：2019/12/05
Homozygous loss-of-function mutations in FSIP2 cause male infertility with asthenoteratospermia 期刊论文
JOURNAL OF GENETICS AND GENOMICS, 2019, 卷号: 46, 期号: 1
作者:  Liu, Wangjie;  Wu, Huan;  Wang, Li;  Yang, Xiaoyu;  Liu, Chunyu
收藏  |  浏览/下载：37/0  |  提交时间：2019/12/05
Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants 期刊论文
HUMAN MUTATION, 2019, 卷号: 40, 期号: 5
作者:  Lv, Tingxia;  Li, Xiaojin;  Zhang, Wei;  Zhou, Donghu;  Xu, Anjian
收藏  |  浏览/下载：36/0  |  提交时间：2019/12/05
The Increased Expression of Estrogen-Related Receptor alpha Correlates with Wnt5a and Poor Prognosis in Patients with Glioma 期刊论文
MOLECULAR CANCER THERAPEUTICS, 2019, 卷号: 18, 期号: 1
作者:  Zhang, Liudi;  Zhu, Yingfeng;  Cheng, Haixia;  Zhang, Jinsen;  Zhu, Yuqian
收藏  |  浏览/下载：48/0  |  提交时间：2019/12/05
Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility 期刊论文
JOURNAL OF HUMAN GENETICS, 2019, 卷号: 64, 期号: 1
作者:  Li, Weiyu;  He, Xiaojin;  Yang, Shenmin;  Liu, Chunyu;  Wu, Huan
收藏  |  浏览/下载：29/0  |  提交时间：2019/12/05
Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice 期刊论文
AMERICAN JOURNAL OF HUMAN GENETICS, 2019, 卷号: 104, 期号: 4
作者:  Liu, Wangjie;  He, Xiaojin;  Yang, Shenmin;  Zouari, Raoudha;  Wang, Jiaxiong
收藏  |  浏览/下载：36/0  |  提交时间：2019/12/05

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