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CORC

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Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract 期刊论文
CANCER COMMUNICATIONS, 2022
作者:  Wu, Huanwen;  Yu, Zicheng;  Liu, Yueping;  Guo, Lei;  Teng, Lianghong
收藏  |  浏览/下载：23/0  |  提交时间：2022/12/22
Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice 期刊论文
AMERICAN JOURNAL OF HUMAN GENETICS, 2019, 卷号: 104, 期号: 2
作者:  Coutton, Charles;  Martinez, Guillaume;  Kherraf, Zine-Eddine;  Amiri-Yekta, Amir;  Boguenet, Magalie
收藏  |  浏览/下载：8/0  |  提交时间：2019/12/05
Bi-Allelic Mutations in NUP205 and NUP210 Are Associated With Abnormal Cardiac Left-Right Patterning 期刊论文
CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2019, 卷号: 12, 期号: 7
作者:  Chen, Weicheng;  Zhang, Yuan;  Yang, Sunhu;  Shi, Zhiwen;  Zeng, Weijia
收藏  |  浏览/下载：20/0  |  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
Bi‐allelic recessive loss‐of‐function mutations in FIGLA cause premature ovarian insufficiency with short stature 期刊论文
Clinical Genetics, 2019, 卷号: Vol.95 No.3, 页码: 409-414
作者:  Ping Yuan;  Zuyong He;  Silong Sun;  Yu Li;  Wenjun Wang
收藏  |  浏览/下载：18/0  |  提交时间：2019/12/17
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation 期刊论文
2019, 卷号: 104, 期号: 5, 页码: 925-935
作者:  Guo, Long;  Bertola, Debora Romeo;  Takanohashi, Asako;  Saito, Asuka;  Segawa, Yuko
收藏  |  浏览/下载：19/0  |  提交时间：2020/01/03
Bi-allelic recessive loss-of-function mutations in FIGLA cause premature ovarian insufficiency with short stature. 期刊论文
Clinical genetics, 2018
作者:  Yuan Ping;  He Zuyong;  Sun Silong;  Li Yu;  Wang Wenjun
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/26
Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome 期刊论文
2018, 卷号: 6, 期号: 8, 页码: 1448-1451
作者:  Ling Chao;  Yang Wei;  Sun Hailang;  Ge Ming;  Ji Yuanqi
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03
Efficient bi-allelic gene knockout and site-specific knock-in mediated by TALENs in pigs 期刊论文
scientific reports, 2014
Yao, Jing; Huang, Jiaojiao; Hai, Tang; Wang, Xianlong; Qin, Guosong; Zhang, Hongyong; Wu, Rong; Cao, Chunwei; Xi, Jianzhong Jeff; Yuan, Zengqiang; Zhao, Jianguo
收藏  |  浏览/下载：9/0  |  提交时间：2015/11/11
The reduction of vascular disease risk mutations contributes to longevity in the Chinese population 期刊论文
META GENE, 2014, 卷号: 2, 期号: X, 页码: 761-768
作者:  He YH;  Lu X;  Bi MX;  Yang LQ;  Xu LY
收藏  |  浏览/下载：9/0  |  提交时间：2015/06/10

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