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CORC

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A de novo ANK1 mutation associated to hereditary spherocytosis: a case report 期刊论文
BMC PEDIATRICS, 2019, 卷号: 19
作者:  Huang, Ti-Long;  Sang, Bao-Hua;  Lei, Qing-Ling;  Song, Chun-Yan;  Lin, Yun-Bi
收藏  |  浏览/下载：26/0  |  提交时间：2019/12/04
Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct 期刊论文
CLINICAL AND EXPERIMENTAL OTORHINOLARYNGOLOGY, 2019, 卷号: Vol.12 No.1, 页码: 50
作者:  Yu, Yongbo;  Yang, Yang;  Lu, Jie;  Jin, Yaqiong;  Yang, Yeran
收藏  |  浏览/下载：5/0  |  提交时间：2019/12/17
Truncated Epithelial Sodium Channel β Subunit Responsible for Liddle Syndrome in a Chinese Family 期刊论文
2019, 页码: 1-8
作者:  Fan Peng;  Lu Chao-Xia;  Yang Kun-Qi;  Lu Pei-Pei;  Hao Su-Fang
收藏  |  浏览/下载：28/0  |  提交时间：2020/01/03
A Novel Frameshift Mutation of SCNN1G Causing Liddle Syndrome with Normokalemia 期刊论文
2019, 卷号: 32, 期号: 8, 页码: 752-758
作者:  Fan Peng;  Zhao Yu-Mo;  Zhang Di;  Liao Ying;  Yang Kun-Qi
收藏  |  浏览/下载：10/0  |  提交时间：2020/01/03
Identification of a novel COL4A5 mutation in the proband initially diagnosed as IgAN from a Chinese family with X-linked Alport syndrome 期刊论文
Science China Life Sciences, 2019
作者:  Li, Z.*;  Zhu, P.;  Huang, H.;  Pan, Y.;  Han, P.
收藏  |  浏览/下载：18/0  |  提交时间：2019/12/27
A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report 期刊论文
BMC MEDICAL GENETICS, 2018, 卷号: 19, 期号: 1
作者:  Xu, Peiwen;  Huang, Sexing;  Li, Jie;  Zou, Yang;  Gao, Ming
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11
Case report of a novel PCDH19 frameshift mutation in a girl with epilepsy and mental retardation limited to females 期刊论文
MEDICINE, 2018, 卷号: 97, 期号: 51
作者:  Zhang, Xinying;  Chen, Na;  Ma, Aihua;  Wang, Xueyu;  Sun, Wenxiu
收藏  |  浏览/下载：11/0  |  提交时间：2019/12/11
A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report 期刊论文
BMC Medical Genetics, 2018, 卷号: Vol.19 No.1, 页码: 1-6
作者:  Peiwen Xu;  Sexing Huang;  Jie Li;  Yang Zou;  Ming Gao
收藏  |  浏览/下载：17/0  |  提交时间：2019/12/26
Liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel frameshift mutation of SCNN1B 期刊论文
2018, 卷号: 7, 期号: 12, 页码: 1528-1534
作者:  Fan, Peng;  Lu, Chao-Xia;  Zhang, Di;  Yang, Kun-Qi;  Lu, Pei-Pei
收藏  |  浏览/下载：4/0  |  提交时间：2020/01/03
Phylogeny and systematic revision of the genus Typhlomys (Rodentia, Platacanthomyidae), with description of a new species 期刊论文
Journal of Mammalogy, 2017, 卷号: X, 期号: X, 页码: 1-13
作者:  Cheng F;  He K[*];  Li JT;  Zhang BW[*];  Jiang XL[*]
收藏  |  浏览/下载：46/0  |  提交时间：2017/04/12

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