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浏览/检索结果: 共5条，第1-5条 帮助 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 GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function 期刊论文 Journal of Human Genetics, 2017, 卷号: 62, 期号: 6, 页码: 589-597 作者:  Chen, Wenjuan;  Shieh, Christine;  Swanger, Sharon A.;  Tankovic, Anel;  Au, Margaret 收藏  |  浏览/下载：2/0  |  提交时间：2019/12/03 A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia 期刊论文 PLOS ONE, 2017, 卷号: 12, 期号: 2, 页码: e0170818 作者:  Gao, Kai;  Tankovic, Anel;  Zhang, Yujia;  Kusumoto, Hirofumi;  Zhang, Jin 收藏  |  浏览/下载：22/0  |  提交时间：2019/12/03 Glutamate,Epilepsy,Glycine,Protons,Xenopus oocytes,Sleep,Missense mutation,Sensory receptors   Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy. 期刊论文 Molecular Pharmacology, 2017, 卷号: 91, 期号: 4, 页码: 317-330 作者:  Chen, Wenjuan;  Tankovic, Anel;  Burger, Pieter B;  Kusumoto, Hirofumi;  Traynelis, Stephen F 收藏  |  浏览/下载：8/0  |  提交时间：2019/12/03 Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology 期刊论文 PLoS Genetics, 2017, 卷号: 13, 期号: 1, 页码: e1006536 作者:  Ogden, Kevin K;  Chen, Wenjuan;  Swanger, Sharon A;  McDaniel, Miranda J;  Fan, Linlin Z 收藏  |  浏览/下载：6/0  |  提交时间：2019/12/03 Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains 期刊论文 The American Journal of Human Genetics, 2016, 卷号: 99, 期号: 6, 页码: 1261-1280 作者:  Swanger, Sharon A.;  Chen, Wenjuan;  Wells, Gordon;  Burger, Pieter B.;  Tankovic, Anel 收藏  |  浏览/下载：2/0  |  提交时间：2019/12/03