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Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment proximal myopathy, seizure, and severe leukoencephalopathy: A case report and protein analysis 期刊论文
CLINICAL NEUROPATHOLOGY, 2019, 卷号: 38, 期号: 3
作者:  Ding, Man;  Wang, Xi;  Zeng, Yanping;  Lu, Zuneng;  Cai, Shuang
收藏  |  浏览/下载:36/0  |  提交时间:2019/12/05
Characteristics of Pompe disease in China: a report from the Pompe registry 期刊论文
ORPHANET JOURNAL OF RARE DISEASES, 2019, 卷号: 14
作者:  
收藏  |  浏览/下载:37/0  |  提交时间:2019/12/05
Novel mutations in ZP1, ZP2, and ZP3 cause female infertility due to abnormal zona pellucida formation 期刊论文
HUMAN GENETICS, 2019, 卷号: 138, 期号: 4
作者:  Sang, Qing;  Wang, Lei;  Fu, Jing;  Wang, Wenjing;  Zhao, Lin
收藏  |  浏览/下载:27/0  |  提交时间:2019/12/05
Association of single-nucleotide polymorphisms in the IL27 gene with autoimmune thyroid diseases 期刊论文
ENDOCRINE CONNECTIONS, 2019, 卷号: 8, 期号: 3
作者:  He, Weiwei;  Wang, Bin;  Mu, Kaida;  Zhang, Jing;  Yang, Yanping
收藏  |  浏览/下载:13/0  |  提交时间:2019/12/05
Extreme pathway analysis reveals the organizing rules of metabolic regulation 期刊论文
PLOS ONE, 2019, 卷号: 14, 期号: 2
作者:  Xi, Yanping;  Wang, Fei
收藏  |  浏览/下载:13/0  |  提交时间:2019/12/05
Rising rural body-mass index is the main driver of the global obesity epidemic in adults 期刊论文
NATURE, 2019, 卷号: 569, 期号: 7755
作者:  Regecova, Valeria;  Ye, Xingwang;  Yiallouros, Panayiotis K.;  Yngve, Agneta;  Yoosefi, Moein
收藏  |  浏览/下载:151/0  |  提交时间:2019/12/05
A pannexin 1 channelopathy causes human oocyte death 期刊论文
SCIENCE TRANSLATIONAL MEDICINE, 2019, 卷号: 11, 期号: 485
作者:  Sang, Qing;  Zhang, Zhihua;  Shi, Juanzi;  Sun, Xiaoxi;  Li, Bin
收藏  |  浏览/下载:34/0  |  提交时间:2019/12/05
Continuous positive airway pressure (CPAP) vs noninvasive positive pressure ventilation (NIPPV) vs noninvasive high frequency oscillation ventilation (NHFOV) as post-extubation support in preterm neonates: protocol for an assessor-blinded, multicenter, randomized controlled trial 期刊论文
BMC PEDIATRICS, 2019, 卷号: 19
作者:  Shi, Yuan;  De Luca, Daniele;  Yuan, Shi;  Wang, Jianhui;  Long, Chen
收藏  |  浏览/下载:118/0  |  提交时间:2019/12/05
Novel mutations in PATL2: expanding the mutational spectrum and corresponding phenotypic variability associated with female infertility 期刊论文
JOURNAL OF HUMAN GENETICS, 2019, 卷号: 64, 期号: 5
作者:  Wang, Lei;  Kuang, Yanping;  Li, Bin;  Sang, Qing;  Wu, Ling
收藏  |  浏览/下载:24/0  |  提交时间:2019/12/05
Trends in Hospitalization and In-Hospital Mortality From VTE, 2007 to 2016, in Chin 期刊论文
CHEST, 2019, 卷号: 155, 期号: 2
作者:  Zhang, Zhu;  Lei, Jieping;  Shao, Xiang;  Dong, Fen;  Wang, Jing
收藏  |  浏览/下载:108/0  |  提交时间:2019/12/05


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