CORC

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CORC

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Recessive variants in plakophilin-2 contributes to early-onset arrhythmogenic cardiomyopathy with severe heart failure 期刊论文
2019, 卷号: 21, 期号: 6, 页码: 970-977
作者:  Chen, Kai;  Rao, Man;  Guo, Guangran;  Duru, Firat;  Chen, Liang
收藏  |  浏览/下载：4/0  |  提交时间：2020/01/03
Variants of ALPK1 with ABCG2, SLC2A9, and SLC22A12 increased the positive predictive value for gout 期刊论文
JOURNAL OF HUMAN GENETICS, 2018, 卷号: 63, 期号: 1, 页码: 63-70
作者:  Tu, Hung-Pin;  Ko, Albert Min-Shan;  Lee, Su-Shin;  Lee, Chi-Pin;  Kuo, Tzer-Min
收藏  |  浏览/下载：37/0  |  提交时间：2019/04/28
Arrhythmogenic right ventricular cardiomyopathy patients with desmoglein-2 variants are characterized by recessive inheritance and progressive heart failure 期刊论文
2018, 卷号: 39, 页码: 101-101
作者:  Chen, K.;  Song, J. P.;  Hu, Q. T.;  Gao, L. L.;  Rao, M.
收藏  |  浏览/下载：2/0  |  提交时间：2020/01/03
Arrhythmogenic right ventricular cardiomyopathy patients with desmoglein-2 variants are characterized by recessive inheritance and progressive heart failure 会议论文
EUROPEAN HEART JOURNAL, 2018-08-01
作者:  Chen, K.;  Song, J. P.;  Hu, Q. T.;  Gao, L. L.;  Rao, M.
收藏  |  浏览/下载：5/0  |  提交时间：2020/01/03
HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families 期刊论文
JOURNAL OF HUMAN GENETICS, 2016, 卷号: 61, 期号: 11, 页码: 959-963
作者:  Imai, Atsuko;  Kohda, Masakazu;  Nakaya, Akihiro;  Sakata, Yasushi;  Murayama, Kei
收藏  |  浏览/下载：19/0  |  提交时间：2017/02/06
CR1 rs3818361 Polymorphism Contributes to Alzheimer's Disease Susceptibility in Chinese Population 期刊论文
MOLECULAR NEUROBIOLOGY, 2016, 卷号: 53, 期号: 6, 页码: 4054-4059
作者:  Li, Yongning;  Song, Dongjing;  Jiang, Yongshuai;  Wang, Jingwei;  Feng, Rennan
收藏  |  浏览/下载：38/0  |  提交时间：2017/03/21
Association of single nucleotide polymorphism rs6983267 with the risk of prostate cancer 期刊论文
ONCOTARGET, 2016, 卷号: 7, 期号: 18, 页码: 25528-25534
作者:  Yang, Yuan;  Wang, Wenjing;  Zhang, Liangcai;  Zhang, Shihua;  Liu, Guiyou
收藏  |  浏览/下载：31/0  |  提交时间：2017/03/21
Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencing 期刊论文
SCIENTIFIC REPORTS, 2015, 卷号: 5, 期号: 0, 页码: 12028
作者:  Imai, Atsuko;  Nakaya, Akihiro;  Fahiminiya, Somayyeh;  Tetreault, Martine;  Majewski, Jacek
收藏  |  浏览/下载：18/0  |  提交时间：2015/09/08
CLU rs2279590 polymorphism contributes to Alzheimer's disease susceptibility in Caucasian and Asian populations 期刊论文
JOURNAL OF NEURAL TRANSMISSION, 2015, 卷号: 122, 期号: 3, 页码: 433-439
作者:  Zhang, Shuyan;  Zhang, Donghui;  Jiang, Yongshuai;  Wu, Lina;  Shang, Hong
收藏  |  浏览/下载：23/0  |  提交时间：2016/06/23
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene 期刊论文
human molecular genetics, 2015
Elsayed Solaf M; Phillips Jennifer B; Heller Raoul; Thoenes Michaela; Elsobky Ezzat; Nürnberg Gudrun; Nürnberg Peter; Seland Saskia; Ebermann Inga; Altmüller Janine; Thiele Holger; Toliat Mohammad; K?rber Friederike; Hu Xue-Jia; Wu Yun-Dong; Zaki Maha S; Abdel-Salam Ghada; Gleeson Joseph; Boltshauser Eugen; Westerfield Monte; Bolz Hanno J
收藏  |  浏览/下载：4/0  |  提交时间：2015/11/13

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