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CORC

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Identification of Novel KMT2B Variants in Chinese Dystonia Patients via Whole-Exome Sequencing 期刊论文
FRONTIERS IN NEUROLOGY, 2019, 卷号: 10
作者:  Ma, Jun;  Wang, Lin;  Yang, Yingmai;  Li, Shanglin;  Wan, Xinhua
收藏  |  浏览/下载：15/0  |  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
The histologic, immunohistochemical, and genetic features of classical Hodgkin lymphoma and anaplastic large cell lymphoma with aberrant T-cell/B-cell antigen expression 期刊论文
HUMAN PATHOLOGY, 2019, 卷号: 84, 页码: 309-320
作者:  Liang, Ke;  Wang, Jun;  Wang, Yan;  Zhou, Zhiqiang;  Ge, Shuang
收藏  |  浏览/下载：10/0  |  提交时间：2019/12/11
Whole-Exome Sequencing Enables the Diagnosis of Variant-Type Xeroderma Pigmentosum 期刊论文
FRONTIERS IN GENETICS, 2019, 卷号: 10
作者:  Fang, Xiaokai;  Sun, Yonghu
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/11
Identification of a novel mutation of RUNX2 in a family with supernumerary teeth and craniofacial dysplasia by whole-exome sequencing: A case report and literature review 期刊论文
MEDICINE, 2018, 卷号: 97, 期号: 32
作者:  Ma, Dan;  Wang, Xuxia;  Guo, Jun;  Zhang, Jun;  Cai, Tao
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11
Mutation analysis of the EBV-lymphoblastoid cell line cautions their use as antigen-presenting cells 期刊论文
IMMUNOLOGY AND CELL BIOLOGY, 2018, 卷号: 96, 期号: 2, 页码: 204-211
作者:  Tan, Qin;  Ku, Wenjing;  Zhang, Chaoting;  Heyilimu, Palashati;  Tian, Yuan
收藏  |  浏览/下载：5/0  |  提交时间：2019/12/11
Whole-Genome Linkage Analysis with Whole-Exome Sequencing Identifies a Novel Frameshift Variant in NEFH in a Chinese Family with Charcot-Marie-Tooth 2: A Novel Variant in NEFH for Charcot-Marie-Tooth 2 期刊论文
NEURODEGENERATIVE DISEASES, 2018, 卷号: 18, 期号: 2-3, 页码: 74-83
作者:  Bian, Xianli;  Lin, Pengfei;  Li, Jiangxia;  Long, Feng;  Duan, Ruonan
收藏  |  浏览/下载：11/0  |  提交时间：2019/12/11
Whole exome sequencing detects CHST3 mutation in patient with acute promyelocytic leukemia A case report 期刊论文
MEDICINE, 2018, 卷号: 97, 期号: 36
作者:  Feng, Lili;  Li, Ying;  Jiang, Yujie;  Wang, Na;  Yuan, Dai
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/11
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing 期刊论文
MOLECULAR GENETICS & GENOMIC MEDICINE, 2018, 卷号: 6, 期号: 5, 页码: 739-748
作者:  Yang, Junli;  Wang, Qiong;  Zhuo, Qingcui;  Tian, Huiling;  Li, Wen
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11
Molecular Genetics of Premature Ovarian Insufficiency 期刊论文
TRENDS IN ENDOCRINOLOGY AND METABOLISM, 2018, 卷号: 29, 期号: 11, 页码: 795-807
作者:  Jiao, Xue;  Ke, Hanni;  Qin, Yingying;  Chen, Zi-Jiang
收藏  |  浏览/下载：6/0  |  提交时间：2019/12/11

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