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CORC

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Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanism 期刊论文
MOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 页码: 11
作者:  Guo, Liyuan;  Jin, Bo;  Zhang, Yidan;  Wang, Jing
收藏  |  浏览/下载：26/0  |  提交时间：2020/10/22
Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa 期刊论文
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2018, 卷号: 22, 期号: 2, 页码: 109-114
作者:  Li, Shujin;  Yang, Mu;  Liu, Wenjing;  Liu, Yuqing;  Zhang, Lin
收藏  |  浏览/下载：22/0  |  提交时间：2020/12/24
A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption 期刊论文
SCIENCE, 2018, 卷号: 360, 期号: 6393, 页码: 1087-1092
作者:  Zhang, Ying-Yu;  Miao, Hong-Hua;  Li, Bo-Liang;  Wei, Jian;  Luo, Jie
收藏  |  浏览/下载：45/0  |  提交时间：2019/04/28
Whole-genome sequencing of monozygotic twins discordant for schizophrenia indicates multiple genetic risk factors for schizophrenia 期刊论文
JOURNAL OF GENETICS AND GENOMICS, 2017, 卷号: 44, 期号: 6, 页码: 295-306
作者:  Tang, Jinsong;  Fan, Yu;  Li, Hong;  Xiang, Qun;  Zhang, Deng-Feng
收藏  |  浏览/下载：58/0  |  提交时间：2017/08/07
Whole-genome sequencing of monozygotic twins discordant for schizophrenia indicates multiple genetic risk factors for schizophrenia 期刊论文
Journal of Genetics and Genomics, 2017, 卷号: 44, 期号: X, 页码: 295-306
作者:  Xiang Q;  Zhang DF;  yanqingtang@163.com;  rckchan@psych.ac.cn;  Cwang.cy@163.net
收藏  |  浏览/下载：58/0  |  提交时间：2017/06/26
Whole-genome sequencing of monozygotic twins discordant for schizophrenia indicates multiple genetic risk factors for schizophrenia 期刊论文
JOURNAL OF GENETICS AND GENOMICS, 2017, 卷号: 44, 期号: 6, 页码: 295-306
作者:  Tang Jinsong;  Fan Yu;  Li Hong;  Xiang Qun;  Zhang DengFeng
收藏  |  浏览/下载：9/0  |  提交时间：2021/02/02
Genetic analysis of population history and high-altitude adaptation of Sherpas living in the Himalayan region 学位论文
北京: 中国科学院研究生院, 2016
作者:  SUSHIL BHANDARI
收藏  |  浏览/下载：40/0  |  提交时间：2017/07/27
Germline mutations in the VHL gene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family 期刊论文
CANCER BIOLOGY & THERAPY, 2016
Yuan, Ping; Sun, Qipeng; Liang, Hao; Wang, Wenjun; Li, Ling; Wang, Ye; Deng, Huan; Lai, Luhua; Chen, Xiaoli; Zhou, Xiangfu
收藏  |  浏览/下载：2/0  |  提交时间：2017/12/03
mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing 期刊论文
Journal of Medical Genetics, 2015, 卷号: 52, 期号: 4, 页码: 275-281
作者:  Li, Jinchen;  Jiang, Yi;  Wang, Tao;  Chen, Huiqian;  Xie, Qing
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/03
Involvement of and Interaction between WNT10A and EDA Mutations in Tooth Agenesis Cases in the Chinese Population 期刊论文
plos one, 2013
He, Huiying; Han, Dong; Feng, Hailan; Qu, Hong; Song, Shujuan; Bai, Baojing; Zhang, Zhenting
收藏  |  浏览/下载：2/0  |  提交时间：2015/11/11

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