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A novel DLL4 missense mutation in a Chinese patient with Adams-Oliver syndrome 期刊论文
2019, 卷号: 132, 期号: 14, 页码: 1755-1757
作者:  Yu, Xue;  Wang, Rong-Rong;  Han, Shi-Rui;  Bai, Xiao;  Habulieti, Xiaerbati
收藏  |  浏览/下载：6/0  |  提交时间：2020/01/03
A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome 期刊论文
2019, 卷号: 7, 期号: 8
作者:  Jiang, Yanyun;  Jin, Hongzhong;  Zeng, Yueping
收藏  |  浏览/下载：7/0  |  提交时间：2020/01/03
Abnormal DWI Signals of Spine in a Sporadic Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia caused by a novel c.1907T > A. Mutation in CSF1R 会议论文
NEUROLOGY, 2019-04-09
作者:  Li, Shanglin;  Yao, Ming;  Zhu, Yicheng;  Bin, Peng;  Cui, Liying
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03
Abnormal DWI Signals of Spine in a Sporadic Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia caused by a novel c.1907T > A. Mutation in CSF1R 期刊论文
2019, 卷号: 92, 期号: 15
作者:  Li, Shanglin;  Yao, Ming;  Zhu, Yicheng;  Bin, Peng;  Cui, Liying
收藏  |  浏览/下载：5/0  |  提交时间：2020/01/03
Novel alanyl-tRNA synthetase 2 (AARS2) homozygous mutation in a consanguineous Chinese family with premature ovarian insufficiency 期刊论文
2019, 卷号: 112, 期号: 3, 页码: 569-+
作者:  Zhou, Yiran;  Chen, Beili;  Li, Lin;  Pan, Hong;  Liu, Beihong
收藏  |  浏览/下载：4/0  |  提交时间：2020/01/03
Detection of ten novel FBN1 mutations in Chinese patients with typical or incomplete Marfan syndrome and an overview of the genotype-phenotype correlations 期刊论文
2019, 卷号: 293, 页码: 186-191
作者:  Gao, Linggen;  Tian, Tao;  Zhou, Xianliang;  Fan, Li;  Wang, Rong
收藏  |  浏览/下载：8/0  |  提交时间：2020/01/03
Identification of a novel PLCD1 mutation in Chinese Han pedigree with hereditary leukonychia and koilonychia 期刊论文
2019, 卷号: 18, 期号: 3, 页码: 912-915
作者:  Xue, Ke;  Zheng, Yajie;  Shen, Changbing;  Cui, Yong
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03
A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I 期刊论文
2019, 卷号: 7, 期号: 7, 页码: e798
作者:  Ma, Jing;  Lin, Ken;  Jiang, Hong-chao;  Yang, Yanli;  Zhang, Yu
收藏  |  浏览/下载：17/0  |  提交时间：2020/01/03
A novel mutation associated with Type III Bartter syndrome: A report of five cases 期刊论文
2019, 卷号: 20, 期号: 1, 页码: 65-72
作者:  Li, Yanhan;  Wu, Chengcheng;  Gu, Jie;  Li, Dong;  Yang, Yanling
收藏  |  浏览/下载：11/0  |  提交时间：2020/01/03
A novel SERPINC1 frameshift mutation in two antithrombin deficiency families 期刊论文
2019
作者:  Zhang Donglei;  Sun Boyang;  Zhang Xian;  Li Huiyuan;  Lin Yani
收藏  |  浏览/下载：14/0  |  提交时间：2020/01/03

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