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CORC

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Two novel SSH1 mutations in Chinese patients with disseminated superficial actinic porokeratosis and immunohistochemical analysis of anti-Slingshot homolog 1 antibody in one typical patient 期刊论文
Journal of the European Academy of Dermatology and Venereology, 2019
作者:  Fu X.;  Liu T.;  Wang Z.;  Zhou G.;  Yu M.
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/11
Identification of two novel GATA6 mutations in an adult with acute myocardial infarction, diabetes, and atrial fibrillation: a case report 期刊论文
JOURNAL OF GERIATRIC CARDIOLOGY, 2019, 卷号: 16, 期号: 10, 页码: 785-788
作者:  Sun, Zhao-Qing;  Cui, Ying-Hua;  Yan, Bo
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11
Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF) 期刊论文
REPRODUCTIVE SCIENCES, 2019, 卷号: 26, 期号: 1, 页码: 26-34
作者:  Sha, Yan-Wei;  Wang, Xiong;  Xu, Xiaohui;  Su, Zhi-Ying;  Cui, Yuanqing
收藏  |  浏览/下载：31/0  |  提交时间：2019/12/11
Three novel mutations of the ATP2A2 gene in Chinese patients with Darier disease 期刊论文
AUSTRALASIAN JOURNAL OF DERMATOLOGY, 2019, 卷号: 60, 期号: 2, 页码: E171-E172
作者:  Zhao, Qing;  Fu, Fanghui;  Fu, Xi'an;  Wang, Zhenzhen;  Liu, Hong
收藏  |  浏览/下载：13/0  |  提交时间：2019/12/11
Review of 52 cases with Hailey-Hailey disease identified 25 novel mutations in Chinese Han population 期刊论文
JOURNAL OF DERMATOLOGY, 2019, 卷号: 46, 期号: 11, 页码: 1024-1026
作者:  Wang, Zhe;  Li, Lulu;  Sun, Lele;  Mi, Zihao;  Fu, Fanghui
收藏  |  浏览/下载：14/0  |  提交时间：2019/12/11
Mitochondrial DNA analyses found five novel mutations in idiopathic epilepsy patients 期刊论文
MITOCHONDRIAL DNA PART B-RESOURCES, 2019, 卷号: 4, 期号: 2, 页码: 2387-2391
作者:  You, Cuiping;  Tao, Rui;  Su, Quanping;  Lu, Yucheng;  Wang, Long
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/11
Novel FSHR mutations in Han Chinese women with sporadic premature ovarian insufficiency 期刊论文
MOLECULAR AND CELLULAR ENDOCRINOLOGY, 2019, 卷号: 492
作者:  Liu, Hongli;  Guo, Ting;  Gong, Zheng;  Yu, Yongze;  Zhang, Yingxin
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/11
Basal ganglia calcification and novel compound heterozygous mutations in the PANK2 gene in a Chinese boy with classic Pantothenate kinase-associated neurodegeneration A case report 期刊论文
MEDICINE, 2018, 卷号: 97, 期号: 15
作者:  Shi, Xulai;  Zheng, Feixia;  Ye, Xiuyun;  Li, Xiucui;  Zhao, Qianlei
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/11
Correction to: Novel and de novo mutations in pediatric refractory epilepsy (Molecular Brain (2018) 11 (48) DOI: 10.1186/s13041-018-0392-5) 期刊论文
Molecular Brain, 2018, 卷号: 11, 期号: 1
作者:  Liu J.;  Tong L.;  Song S.;  Niu Y.;  Li J.
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11
Two Novel Heterozygous Mutations in the CYP17A1 Gene in a Chinese Patient with 17 alpha-Hydroxylase 17,20-Lyase Deficiency 期刊论文
DISCOVERY MEDICINE, 2018, 卷号: 26, 期号: 145, 页码: 243-249
作者:  Sun, Xianglan;  Li, Minglong;  Wang, Yao;  Bi, Ye
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/11

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