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CORC

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Linear mixed models for association analysis of quantitative traits with next-generation sequencing data 期刊论文
GENETIC EPIDEMIOLOGY, 2019, 卷号: 43, 期号: 2
作者:  Chiu, Chi-yang;  Yuan, Fang;  Zhang, Bingsong;  Yuan, Ao;  Li, Xin
收藏  |  浏览/下载：19/0  |  提交时间：2019/12/04
Pulmonary inflammatory myofibroblastic tumour and IgG(4)-related disease presenting with lower limb paralysis 期刊论文
2019, 卷号: 74, 期号: 3, 页码: 313-314
作者:  Zhang, Shuo;  Zhang, Shangzhu;  Zhang, Wen;  He, Jia;  Shi, Juhong
收藏  |  浏览/下载：1/0  |  提交时间：2020/01/03
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia 期刊论文
2019, 卷号: 104, 期号: 3, 页码: 439-453
作者:  Chang, Hae Ryung;  Cho, Sung Yoon;  Lee, Jae Hoon;  Lee, Eunkyung;  Seo, Jieun
收藏  |  浏览/下载：34/0  |  提交时间：2020/01/03
China has officially released its first national list of rare diseases 期刊论文
INTRACTABLE & RARE DISEASES RESEARCH, 2018, 卷号: 7, 期号: 2
作者:  He, Jiangjiang;  Kang, Qi;  Hu, Jiahao;  Song, Peipei;  Jin, Chunlin
收藏  |  浏览/下载：6/0  |  提交时间：2019/12/05
Mutations in WDR4 as a new cause of Galloway–Mowat syndrome 期刊论文
American Journal of Medical Genetics Part A, 2018, 卷号: Vol.176 No.11, 页码: 2460-2465
作者:  Daniela A. Braun;  Shirlee Shril;  Aditi Sinha;  Ronen Schneider;  Weizhen Tan
收藏  |  浏览/下载：6/0  |  提交时间：2019/12/26
Replacement Therapies in Metabolic Disease 期刊论文
CURRENT PHARMACEUTICAL BIOTECHNOLOGY, 2018, 卷号: Vol.19 No.5, 页码: 382-399
作者:  Keller, Alexander S.;  Keller, T. C. Stevenson;  DeLalio, Leon J.;  Shahab, Guleer;  Yang, Yang
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/26
Congenital anal atresia with rectovestibular fistula, scoliosis, unilateral renal agenesis, and finger defect (VACTERL association) in a patient with partial bicornuate uterus and distal vaginal atresia A case report 期刊论文
2018, 卷号: 97, 期号: 45, 页码: e12822
作者:  Kang, Jia;  Mao, Meng;  Zhang, Ye;  Ai, Fang-Fang;  Zhu, Lan
收藏  |  浏览/下载：6/0  |  提交时间：2020/01/03
National Rare Diseases Registry System of China and Related Cohort Studies: Vision and Roadmap 期刊论文
2018, 卷号: 29, 期号: 2,SI, 页码: 128-135
作者:  Feng, Shi;  Liu, Shuang;  Zhu, Chong;  Gong, Mengchun;  Zhu, Yicheng
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03
Lack of a pulmonary vein causing unilateral interlobular septal thickening 期刊论文
2018, 卷号: 73, 期号: 2, 页码: 199-200
作者:  Wang Hanping;  Zhang Li;  Liu Wei;  Xu Kai-Feng;  Shi Juhong
收藏  |  浏览/下载：8/0  |  提交时间：2020/01/03
Epidemiological research, scientific research, and applied research on rare diseases in China: current challenges and prospects for the future 期刊论文
EXPERT OPINION ON ORPHAN DRUGS, 2017, 卷号: 5, 期号: 1, 页码: 37-44
作者:  Tang, Qi;  Song, Peipei;  Mei, Lin;  Xu, Lingzhong;  Tang, Wei
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/16

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