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CORC

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Infant cholestasis patient with a novel missense mutation in the AKR1D1 gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature 期刊论文
WORLD JOURNAL OF GASTROENTEROLOGY, 2018, 卷号: 24, 期号: 35
作者:  Wang, Hui-Hui;  Wen, Fei-Qiu;  Dai, Dong-Ling;  Wang, Jian-She;  Zhao, Jing
收藏  |  浏览/下载：10/0  |  提交时间：2019/12/05
A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease 期刊论文
CHINESE MEDICAL JOURNAL, 2017, 卷号: 130, 期号: 15
作者:  Li, Li-Xi;  Dong, Hai-Lin;  Xiao, Bao-Guo;  Wu, Zhi-Ying
收藏  |  浏览/下载：13/0  |  提交时间：2019/12/05
Identification and functional characterization of two missense mutations in NDRG1 associated with Charcot-Marie-Tooth disease type 4D 期刊论文
HUMAN MUTATION, 2017, 卷号: 38, 期号: 11
作者:  Li, Li-Xi;  Liu, Gong-Lu;  Liu, Zhi-Jun;  Lu, Cong;  Wu, Zhi-Ying
收藏  |  浏览/下载：6/0  |  提交时间：2019/12/05
A Novel Functional Missense Mutation p.T219A in Type 1 Gauchers Disease 期刊论文
CHINESE MEDICAL JOURNAL, 2016, 卷号: 129, 期号: 9
作者:  Liu, Lin-Yu;  Liu, Fei;  Du, Si-Chen;  Jiang, Sha-Yi;  Wang, Hui-Jun
收藏  |  浏览/下载：8/0  |  提交时间：2019/12/05
A novel mutation in the glutamate dehydrogenase (GLUD1) of a patient with congenital hyperinsulinism-hyperammonemia (HI/HA) 期刊论文
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2016, 卷号: 29, 期号: 3
作者:  Fang, Chen;  Ding, Xin;  Huang, Yun;  Huang, Jian;  Zhao, Pengjun
收藏  |  浏览/下载：9/0  |  提交时间：2019/12/05
Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss 期刊论文
JOURNAL OF TRANSLATIONAL MEDICINE, 2016, 卷号: 14
作者:  Hu, Jiongjiong;  Liu, Fei;  Xia, Wenjun;  Hao, Lili;  Lan, Jun
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/05
Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH 期刊论文
NEURAL PLASTICITY, 2016
作者:  Gu, Xiaodong;  Su, Wenling;  Tang, Mingliang;  Guo, Luo;  Zhao, Liping
收藏  |  浏览/下载：6/0  |  提交时间：2019/12/05
Identification of a novel homozygous mutation in MYO3A in a Chinese family with DFNB30 non-syndromic hearing impairment 期刊论文
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2016, 卷号: 84
作者:  Qu, Ronggui;  Sang, Qing;  Xu, Yao;  Feng, Ruizhi;  Jin, Li
收藏  |  浏览/下载：8/0  |  提交时间：2019/12/06
A novel mutation in MBTPS2 causes a broad phenotypic spectrum of ichthyosis follicularis, atrichia, and photophobia syndrome in a large Chinese family 期刊论文
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2011, 卷号: 64, 期号: 4
作者:  Tang, Li;  Liang, Jianying;  Wang, Wenzhang;  Yu, Long;  Yao, Zhirong
收藏  |  浏览/下载：9/0  |  提交时间：2019/12/19
Three novel missense germline mutations in different exons of MSH6 gene in Chinese hereditary non-polyposis colorectal cancer families 期刊论文
WORLD JOURNAL OF GASTROENTEROLOGY, 2007, 卷号: 13, 期号: 37
作者:  Yan, Shi-Yan;  Zhou, Xiao-Yan;  Du, Xiang;  Zhang, Tai-Ming;  Lu, Yong-Ming
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/27

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