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CORC

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Mutation profile of APP, PSEN1, and PSEN2 in Chinese familial Alzheimer's disease 期刊论文
NEUROBIOLOGY OF AGING, 2019, 卷号: 77
作者:  Gao, Ying;  Ren, Ru-Jing;  Zhong, Zi-Lin;  Dammer, Eric;  Zhao, Qian-Hua
收藏  |  浏览/下载：57/0  |  提交时间：2019/12/05
Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature 期刊论文
FRONTIERS IN ENDOCRINOLOGY, 2019, 卷号: 10
作者:  Abuduxikuer, Kuerbanjiang;  Li, Zhong-Die;  Xie, Xin-Bao;  Li, Yu-Chuan;  Zhao, Jing
收藏  |  浏览/下载：17/0  |  提交时间：2019/12/05
Association of family history of tumors with clinicopathological characteristics and prognosis of colorectal cancer 期刊论文
EUROPEAN JOURNAL OF CANCER PREVENTION, 2019, 卷号: 28, 期号: 4
作者:  Shan, Tao;  Chen, Shuo;  Chen, Xi;  Lin, Wanrun;  Li, Wei
收藏  |  浏览/下载：9/0  |  提交时间：2019/12/05
Intra-Familial Phenotypic Heterogeneity and Telomere Abnormality in von Hippel-Lindau Disease: Implications for Personalized Surveillance Plan and Pathogenesis of VHL-Associated Tumors 期刊论文
FRONTIERS IN GENETICS, 2019, 卷号: 10
作者:  Wang, Jiangyi;  Peng, Xiang;  Chen, Cen;  Ning, Xianghui;  Peng, Shuanghe
收藏  |  浏览/下载：51/0  |  提交时间：2019/12/05
ZBTB17 loss-of-function mutation contributes to familial dilated cardiomyopathy 期刊论文
HEART AND VESSELS, 2018, 卷号: 33, 期号: 7
作者:  Sun, Yu-Min;  Wang, Jun;  Xu, Ying-Jia;  Wang, Xin-Hua;  Yuan, Fang
收藏  |  浏览/下载：26/0  |  提交时间：2019/12/05
The Novel Pathogenic Mutation c.849dupT in BRCA2 Contributes to the Nonsense-Mediated mRNA Decay of BRCA2 in Familial Breast Cancer 期刊论文
JOURNAL OF BREAST CANCER, 2018, 卷号: 21, 期号: 3
作者:  Li, Sanrong;  Ma, Jing;  Hu, Caiying;  Zhang, Xing;  Xiao, Deyong
收藏  |  浏览/下载：10/0  |  提交时间：2019/12/05
Expression of DNA Damage Response Proteins and Associations with Clinicopathologic Characteristics in Chinese Familial Breast Cancer Patients with BRCA1/2 Mutations 期刊论文
JOURNAL OF BREAST CANCER, 2018, 卷号: 21, 期号: 3
作者:  Zhu, Xinyi;  Tian, Tian;  Ruan, Miao;  Rao, Jia;  Yang, Wentao
收藏  |  浏览/下载：11/0  |  提交时间：2019/12/05
Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children 期刊论文
BMC MEDICAL GENETICS, 2018, 卷号: 19
作者:  Xu, Dandan;  Sun, Chengjun;  Zhou, Zeyi;  Wu, Bingbing;  Yang, Lin
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/05
MEF2C loss-of-function mutation associated with familial dilated cardiomyopathy 期刊论文
CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 2018, 卷号: 56, 期号: 3
作者:  Yuan, Fang;  Qiu, Zhao-Hui;  Wang, Xing-Hua;  Sun, Yu-Min;  Wang, Jun
收藏  |  浏览/下载：10/0  |  提交时间：2019/12/05
Whole-exome sequencing identifies rare compound heterozygous mutations in the MYBPC3 gene associated with severe familial hypertrophic cardiomyopathy 期刊论文
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2018, 卷号: 61, 期号: 8
作者:  Zhou, Nianwei;  Qin, Shengmei;  Li, Yili;  Tang, Lu;  Zha, Weipeng
收藏  |  浏览/下载：6/0  |  提交时间：2019/12/05

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