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浏览/检索结果: 共23条，第1-10条 帮助 限定条件 专题：湖南大学    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 Exome sequencing identifies compound heterozygous KCTD7 mutations in a girl with progressivemyoclonus epilepsy 期刊论文 Clinica Chimica Acta, 2019, 卷号: Vol.493, 页码: 87-91 作者:  Libin Mei;  Yanru Huang;  Jing Chen;  XueMei He;  Shaobin Lin 收藏  |  浏览/下载：12/0  |  提交时间：2019/12/13 Progressive myoclonic epilepsies  KCTD7  Compound heterozygous mutations  Whole-exome sequencing   Exome sequencing identifies compound heterozygous KCTD7 mutations in a girl with progressivemyoclonus epilepsy 期刊论文 Clinica Chimica Acta, 2019 作者:  Libin Mei;  Yanru Huang;  Jing Chen;  XueMei He;  Shaobin Lin 收藏  |  浏览/下载：22/0  |  提交时间：2019/12/13 Progressive myoclonic epilepsies  KCTD7  Compound heterozygous mutations  Whole-exome sequencing   Whole-exome sequencing identification of a novel splicing mutation of RUNX2 in a Chinese family with cleidocranial dysplasia 期刊论文 Archives of Oral Biology, 2019, 卷号: Vol.100, 页码: 49-56 作者:  Tingting Zhang;  Jing Wu;  Xiaoxue Zhao;  Feifei Hou;  Tengfei Ma 收藏  |  浏览/下载：31/0  |  提交时间：2019/12/17 Cleidocranial  dysplasia  RUNX2  Splice-site  mutation  Whole-exome  sequencing  IBSP   A novel PAX9 mutation found in a Chinese patient with hypodontia via whole exome sequencing. 期刊论文 Oral Diseases, 2019, 卷号: Vol.25 No.1, 页码: 234-241 作者:  Zhang, Tingting;  Zhao, Xiaoxue;  Hou, Feifei;  Sun, Yanwei;  Wu, Jing 收藏  |  浏览/下载：21/0  |  提交时间：2019/12/17 HYPODONTIA  *DIAGNOSIS  *BONE  morphogenetic  proteins  *GENE  expression  *MUTATION  (Biology)  *OXIDOREDUCTASES  *POLYMERASE  chain  reaction  *TRANSCRIPTION  factors  *BIOINFORMATICS  *SEQUENCE  analysis  GENETIC  aspects   A novel PAX9 mutation found in a Chinese patient with hypodontia via whole exome sequencing 期刊论文 ORAL DISEASES, 2019, 卷号: Vol.25 No.1, 页码: 234-241 作者:  Zhang, Tingting;  Zhao, Xiaoxue;  Hou, Feifei;  Sun, Yanwei;  Wu, Jing 收藏  |  浏览/下载：12/0  |  提交时间：2019/12/17 BMP4  gene  mutation  non-syndromic  hypodontia  PAX9  gene  whole  exome  sequencing   A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family 期刊论文 European Journal of Medical Genetics, 2019 作者:  Lijian Xie;  Cuilan Hou;  Xunwei Jiang;  Jian Zhao;  Yun Li 收藏  |  浏览/下载：7/0  |  提交时间：2019/12/17 Trans-2,  3-Enoyl-CoA  reductase-like  (Tecrl)  Catecholaminergic  polymorphic  ventricular  tachycardia  (CPVT)  Sudden  cardiac  death  (SCD)  Whole-exome  sequencing  (WES)   A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family. 期刊论文 European journal of medical genetics, 2019 作者:  Lijian Xie;  Cuilan Hou;  Xunwei Jiang;  Jian Zhao;  Yun Li 收藏  |  浏览/下载：7/0  |  提交时间：2019/12/17 Catecholaminergic polymorphic ventricular tachycardia (CPVT)  Sudden cardiac death (SCD)  Trans-2, 3-Enoyl-CoA reductase-like (Tecrl)  Whole-exome sequencing (WES)   Whole-exome sequencing identification of a novel splicing mutation of RUNX2 in a Chinese family with cleidocranial dysplasia. 期刊论文 Archives of oral biology, 2019, 卷号: Vol.100, 页码: 49-56 作者:  Tingting Zhang;  Jing Wu;  Xiaoxue Zhao;  Feifei Hou;  Tengfei Ma 收藏  |  浏览/下载：15/0  |  提交时间：2019/12/17 Cleidocranial dysplasia  IBSP  RUNX2  Splice-site mutation  Whole-exome sequencing   Biallelic mutations in PMFBP1 cause acephalic spermatozoa 期刊论文 Clinical Genetics, 2019, 卷号: Vol.95 No.2, 页码: 277-286 作者:  Yan‐Wei Sha;  Xiong Wang;  Xiaohui Xu;  Lu Ding;  Wen‐Sheng Liu 收藏  |  浏览/下载：23/0  |  提交时间：2019/12/13 acephalic  spermatozoa  consanguineous  family  gene  knock‐out  mice  PMFBP1  whole‐exome  sequencing   A novel PAX9 mutation found in a Chinese patient with hypodontia via whole exome sequencing 期刊论文 Oral Diseases, 2019, 卷号: Vol.25 No.1, 页码: 234-241 作者:  Tingting Zhang;  Xiaoxue Zhao;  Feifei Hou;  Yanwei Sun;  Jing Wu 收藏  |  浏览/下载：12/0  |  提交时间：2019/12/13 BMP4  gene  mutation  non‐syndromic  hypodontia  PAX9  gene  whole  exome  sequencing