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浏览/检索结果: 共9条，第1-9条 帮助 限定条件 专题：山东大学    第一署名单位    第一作者单位    通讯作者单位     已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 A De Novo Frameshift Mutation in TNFAIP3 Impairs A20 Deubiquitination Function to Cause Neuropsychiatric Systemic Lupus Erythematosus 期刊论文 Journal of Clinical Immunology, 2019, 卷号: 39, 期号: 8, 页码: 795-804 作者:  Duan R.;  Liu Q.;  Li J.;  Bian X.;  Yuan Q. 收藏  |  浏览/下载：17/0  |  提交时间：2019/12/11 blood-brain barrier  K63-linked ubiquitin  neuropsychiatric systemic lupus erythematosus  NF-κB  TNFAIP3  TRAF6   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 Charcot-Marie-Tooth disease  Neurofilament heavy polypeptide gene  Whole-genome linkage analysis  Whole-exome sequencing  Zebrafish model   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 Autosomal dominant polycystic kidney disease  PKD1 gene  Novel splice  mutation  Frameshift mutation   c. 1439delA frameshift deletion mutation in familial adenomatous polyposis 期刊论文 ONCOTARGETS AND THERAPY, 2018, 卷号: 11, 页码: 8987-8993 作者:  Ma, De-Jian;  Wang, Bi-Shi;  Yue, Jin-Bo;  Li, Zeng-Jun;  Sun, Yan-Lai 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11 familial adenomatous polyposis  mutation  APC gene  exon 12  colorectal  cancer   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 c.2468delT  epilepsy with mental retardation limited to females  frameshift mutation  protocadherin 19   Detection of a New NFKB1 Frameshift Mutation Associated with Primary Immunodeficiency Diseases 会议论文 60th Annual Meeting of the American-Society-of-Hematology (ASH), DEC 01-04, 2018 作者:  Liu, Anli;  Feng, Qi;  Wang, Shuwen;  Hua, Mingqiang;  Hou, Yu 收藏  |  浏览/下载：7/0  |  提交时间：2019/12/31 Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review 期刊论文 Clinical Dysmorphology, 2017, 卷号: 26, 期号: 3, 页码: 135-141 作者:  Kaihui.Zhang;  Chen.Meng;  Jing.Ma;  Min.Gao;  Yuqiang.Lv 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11 high-throughput nucleotide sequencing  Joubert syndrome 10  mutation  OFD1   Homozygous DNAH1 frameshift mutation causes multiple morphological anomalies of the sperm flagella in Chinese 期刊论文 CLINICAL GENETICS, 2017, 卷号: 91, 期号: 2, 页码: 313-321 作者:  Wang, X.;  Jin, H.;  Han, F.;  Cui, Y.;  Chen, J. 收藏  |  浏览/下载：12/0  |  提交时间：2019/12/12 DNAH1  genetic diagnosis  male infertility  multiple morphological  anomalies of flagella  severe asthenozoospermia  sperm motility   Identification of three novel frameshift mutations of the MVK gene in four Chinese families with disseminated superficial actinic porokeratosis 期刊论文 British Journal of Dermatology, 2013, 卷号: 169, 期号: 1, 页码: 193-195 作者:  Zhou,Y.;  Liu,J.;  Fu,X.;  Yu,Y.;  Shi,B. 收藏  |  浏览/下载：1/0  |  提交时间：2019/12/23