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- [1] GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy[J]. ANNALS OF NEUROLOGY, 2014, 75 (01) : 147 - 154Lemke, Johannes R.论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Inselspital, Div Human Genet, Univ Childrens Hosp, CH-3010 Bern, Switzerland RES Consortium, Partners EuroEPIN, Andover, Hants, England Univ Bern, Inselspital, Div Human Genet, Univ Childrens Hosp, CH-3010 Bern, SwitzerlandHendrickx, Rik论文数: 0 引用数: 0 h-index: 0机构: Vlaams Inst Biotechnol, Neurogenet Grp, Dept Mol Genet, Antwerp, Belgium Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium Univ Bern, Inselspital, Div Human Genet, Univ Childrens Hosp, CH-3010 Bern, SwitzerlandGeider, Kirsten论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Darmstadt, Dept Neurophysiol & Neurosensory Syst, Darmstadt, Germany Univ Bern, Inselspital, Div Human Genet, Univ Childrens Hosp, CH-3010 Bern, SwitzerlandLaube, Bodo论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Darmstadt, Dept Neurophysiol & Neurosensory Syst, Darmstadt, Germany Univ Bern, Inselspital, Div Human Genet, Univ Childrens Hosp, CH-3010 Bern, SwitzerlandSchwake, Michael论文数: 0 引用数: 0 h-index: 0机构: Univ Bielefeld, Fac Chem, Bielefeld, Germany Univ Bern, Inselspital, Div Human Genet, Univ Childrens Hosp, CH-3010 Bern, SwitzerlandHarvey, Robert J.论文数: 0 引用数: 0 h-index: 0机构: UCL, Sch Pharm, Dept Pharmacol, London, England Univ Bern, Inselspital, Div Human Genet, Univ Childrens Hosp, CH-3010 Bern, SwitzerlandJames, Victoria M.论文数: 0 引用数: 0 h-index: 0机构: UCL, Sch Pharm, Dept Pharmacol, London, England Univ Bern, Inselspital, Div Human Genet, Univ Childrens Hosp, CH-3010 Bern, SwitzerlandPepler, Alex论文数: 0 引用数: 0 h-index: 0机构: UCL, Sch Pharm, Dept Pharmacol, London, England CeGaT GmbH, Tubingen, Germany Univ Bern, Inselspital, Div Human Genet, Univ Childrens Hosp, CH-3010 Bern, SwitzerlandSteiner, Isabelle论文数: 0 引用数: 0 h-index: 0机构: CeGaT GmbH, Tubingen, Germany Univ Bern, Inselspital, Div Human Genet, Univ Childrens Hosp, CH-3010 Bern, SwitzerlandHoertnagel, Konstanze论文数: 0 引用数: 0 h-index: 0机构: CeGaT GmbH, Tubingen, Germany Univ Bern, Inselspital, Div Human Genet, Univ Childrens Hosp, CH-3010 Bern, SwitzerlandNeidhardt, John论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Mol Genet, CH-8006 Zurich, Switzerland Univ Bern, Inselspital, Div Human Genet, Univ Childrens Hosp, CH-3010 Bern, SwitzerlandRuf, Susanne论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Dept Neuropediat, Tubingen, Germany Univ Bern, Inselspital, Div Human Genet, Univ Childrens Hosp, CH-3010 Bern, SwitzerlandWolff, Markus论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Dept Neuropediat, Tubingen, Germany Univ Bern, Inselspital, Div Human Genet, Univ Childrens Hosp, CH-3010 Bern, SwitzerlandBartholdi, Deborah论文数: 0 引用数: 0 h-index: 0机构: Klin Stuttgart, Inst Clin Genet, Stuttgart, Germany Univ Bern, Inselspital, Div Human Genet, Univ Childrens Hosp, CH-3010 Bern, SwitzerlandCaraballo, Roberto论文数: 0 引用数: 0 h-index: 0机构: Juan P Garrahan Pediat Hosp, Dept Neurol, Buenos Aires, DF, Argentina Univ Bern, Inselspital, Div Human Genet, Univ Childrens Hosp, CH-3010 Bern, SwitzerlandPlatzer, Konrad论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Dept Human Genet, Lubeck, Germany Univ Bern, Inselspital, Div Human Genet, Univ Childrens Hosp, CH-3010 Bern, SwitzerlandSuls, Arvid论文数: 0 引用数: 0 h-index: 0机构: RES Consortium, Partners EuroEPIN, Andover, Hants, England Vlaams Inst Biotechnol, Neurogenet Grp, Dept Mol Genet, Antwerp, Belgium Univ Bern, Inselspital, Div Human Genet, Univ Childrens Hosp, CH-3010 Bern, SwitzerlandDe Jonghe, Peter论文数: 0 引用数: 0 h-index: 0机构: RES Consortium, Partners EuroEPIN, Andover, Hants, England Vlaams Inst Biotechnol, Neurogenet Grp, Dept Mol Genet, Antwerp, Belgium Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium Univ Antwerp Hosp, Dept Neurol, Antwerp, Belgium Univ Bern, Inselspital, Div Human Genet, Univ Childrens Hosp, CH-3010 Bern, SwitzerlandBiskup, Saskia论文数: 0 引用数: 0 h-index: 0机构: CeGaT GmbH, Tubingen, Germany Klin Stuttgart, Inst Clin Genet, Stuttgart, Germany Univ Tubingen, Hertie Inst Clin Brain Res, Tubingen, Germany Univ Tubingen, German Ctr Neurodegenerat Dis, Tubingen, Germany Univ Bern, Inselspital, Div Human Genet, Univ Childrens Hosp, CH-3010 Bern, SwitzerlandWeckhuysen, Sarah论文数: 0 引用数: 0 h-index: 0机构: RES Consortium, Partners EuroEPIN, Andover, Hants, England Vlaams Inst Biotechnol, Neurogenet Grp, Dept Mol Genet, Antwerp, Belgium Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium Univ Bern, Inselspital, Div Human Genet, Univ Childrens Hosp, CH-3010 Bern, Switzerland
- [2] Functional Evaluation of a Novel GRIN2B Missense Variant Associated with Epilepsy and Intellectual Disability[J]. NEUROSCIENCE, 2023, 526 : 107 - 120Wang, Xiaona论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Henan Engn Res Ctr Childhood Neurodev, Henan Prov Key Lab Childrens Genet & Metab Dis, Henan Childrens Hosp,Zhengzhou Childrens Hosp,Chil, Zhengzhou 450018, Henan, Peoples R China Zhengzhou Univ, Henan Engn Res Ctr Childhood Neurodev, Henan Prov Key Lab Childrens Genet & Metab Dis, Henan Childrens Hosp,Zhengzhou Childrens Hosp,Chil, Zhengzhou 450018, Henan, Peoples R ChinaMei, Daoqi论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Henan Childrens Hosp, Zhengzhou Childrens Hosp, Dept Neurol,Childrens Hosp, Zhengzhou 450018, Henan, Peoples R China Zhengzhou Univ, Henan Engn Res Ctr Childhood Neurodev, Henan Prov Key Lab Childrens Genet & Metab Dis, Henan Childrens Hosp,Zhengzhou Childrens Hosp,Chil, Zhengzhou 450018, Henan, Peoples R ChinaGou, Lingshan论文数: 0 引用数: 0 h-index: 0机构: Xuzhou Med Univ, Ctr Genet Med, Xuzhou Matern & Child Hlth Care Hosp, Xuzhou 221000, Jiangsu, Peoples R China Zhengzhou Univ, Henan Engn Res Ctr Childhood Neurodev, Henan Prov Key Lab Childrens Genet & Metab Dis, Henan Childrens Hosp,Zhengzhou Childrens Hosp,Chil, Zhengzhou 450018, Henan, Peoples R ChinaZhao, Shuai论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Henan Engn Res Ctr Childhood Neurodev, Henan Prov Key Lab Childrens Genet & Metab Dis, Henan Childrens Hosp,Zhengzhou Childrens Hosp,Chil, Zhengzhou 450018, Henan, Peoples R China Zhengzhou Univ, Henan Engn Res Ctr Childhood Neurodev, Henan Prov Key Lab Childrens Genet & Metab Dis, Henan Childrens Hosp,Zhengzhou Childrens Hosp,Chil, Zhengzhou 450018, Henan, Peoples R ChinaGao, Chao论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Dept Rehabil, Childrens Hosp, Zhengzhou 450018, Henan, Peoples R China Zhengzhou Univ, Henan Engn Res Ctr Childhood Neurodev, Henan Prov Key Lab Childrens Genet & Metab Dis, Henan Childrens Hosp,Zhengzhou Childrens Hosp,Chil, Zhengzhou 450018, Henan, Peoples R ChinaGuo, Jisheng论文数: 0 引用数: 0 h-index: 0机构: Binzhou Med Univ, Sch Basic Med Sci, Yantai Campus, Yantai 264003, Shandong, Peoples R China Zhengzhou Univ, Henan Engn Res Ctr Childhood Neurodev, Henan Prov Key Lab Childrens Genet & Metab Dis, Henan Childrens Hosp,Zhengzhou Childrens Hosp,Chil, Zhengzhou 450018, Henan, Peoples R ChinaLuo, Shuying论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Henan Engn Res Ctr Childhood Neurodev, Henan Prov Key Lab Childrens Genet & Metab Dis, Henan Childrens Hosp,Zhengzhou Childrens Hosp,Chil, Zhengzhou 450018, Henan, Peoples R China Zhengzhou Univ, Henan Engn Res Ctr Childhood Neurodev, Henan Prov Key Lab Childrens Genet & Metab Dis, Henan Childrens Hosp,Zhengzhou Childrens Hosp,Chil, Zhengzhou 450018, Henan, Peoples R ChinaGuo, Bin论文数: 0 引用数: 0 h-index: 0机构: Ningxia Med Univ, Sch Tradit Chinese Med, Ningxia 750004, Peoples R China Zhengzhou Univ, Henan Engn Res Ctr Childhood Neurodev, Henan Prov Key Lab Childrens Genet & Metab Dis, Henan Childrens Hosp,Zhengzhou Childrens Hosp,Chil, Zhengzhou 450018, Henan, Peoples R ChinaYang, Zhigang论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Henan Childrens Hosp, Zhengzhou Childrens Hosp, Dept Neurol,Childrens Hosp, Zhengzhou 450018, Henan, Peoples R China Zhengzhou Univ, Henan Engn Res Ctr Childhood Neurodev, Henan Prov Key Lab Childrens Genet & Metab Dis, Henan Childrens Hosp,Zhengzhou Childrens Hosp,Chil, Zhengzhou 450018, Henan, Peoples R ChinaWang, Qi论文数: 0 引用数: 0 h-index: 0机构: Guizhou Med Univ, Sch Basic Med, Dept Histol & Embryol, Guiyang 550025, Guizhou, Peoples R China Zhengzhou Univ, Henan Engn Res Ctr Childhood Neurodev, Henan Prov Key Lab Childrens Genet & Metab Dis, Henan Childrens Hosp,Zhengzhou Childrens Hosp,Chil, Zhengzhou 450018, Henan, Peoples R ChinaTan, Tao论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Inst Aging, Key Lab Alzheimers Dis Zhejiang Prov, Zhejiang Lab Regenerat Med Vis & Brain Hlth,Oujian, Wenzhou 325000, Zhejiang, Peoples R China Zhengzhou Univ, Henan Engn Res Ctr Childhood Neurodev, Henan Prov Key Lab Childrens Genet & Metab Dis, Henan Childrens Hosp,Zhengzhou Childrens Hosp,Chil, Zhengzhou 450018, Henan, Peoples R ChinaZhang, Yaodong论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Henan Engn Res Ctr Childhood Neurodev, Henan Prov Key Lab Childrens Genet & Metab Dis, Henan Childrens Hosp,Zhengzhou Childrens Hosp,Chil, Zhengzhou 450018, Henan, Peoples R China Zhengzhou Univ, Henan Engn Res Ctr Childhood Neurodev, Henan Prov Key Lab Childrens Genet & Metab Dis, Henan Childrens Hosp,Zhengzhou Childrens Hosp,Chil, Zhengzhou 450018, Henan, Peoples R China
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BMC MEDICAL GENETICS, 2016, 17Fry, Andrew E.论文数: 0 引用数: 0 h-index: 0机构: Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, Wales Cardiff Univ, Inst Canc & Genet, Cardiff CF14 4XN, S Glam, Wales Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesRees, Elliott论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Inst Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff CF24 4HQ, S Glam, Wales Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesThompson, Rose论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Inst Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff CF24 4HQ, S Glam, Wales Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesMantripragada, Kiran论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Inst Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff CF24 4HQ, S Glam, Wales Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesBlake, Penny论文数: 0 引用数: 0 h-index: 0机构: Learning Disabil Serv, Llwyneryr Unit, Clasemont Rd, Swansea SA6 6AH, W Glam, Wales Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesJones, Glyn论文数: 0 引用数: 0 h-index: 0机构: Abertawe Bro Morgannwg Univ NHS Trust, Learning Disabil Directorate, Treseder Way, Cardiff CF5 5WF, S Glam, Wales Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesMorgan, Sian论文数: 0 引用数: 0 h-index: 0机构: Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, Wales Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesJose, Sian论文数: 0 引用数: 0 h-index: 0机构: Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, Wales Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesMugalaasi, Hood论文数: 0 引用数: 0 h-index: 0机构: Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, Wales Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesArcher, Hayley论文数: 0 引用数: 0 h-index: 0机构: Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, Wales Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesMcCann, Emma论文数: 0 引用数: 0 h-index: 0机构: Glan Clwyd Gen Hosp, Betsi Cadwaladr Univ Hlth Board, Dept Clin Genet, Rhyl LL18 5UJ, Denbighshire, England Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesClarke, Angus论文数: 0 引用数: 0 h-index: 0机构: Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, Wales Cardiff Univ, Inst Canc & Genet, Cardiff CF14 4XN, S Glam, Wales Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesTaylor, Clare论文数: 0 引用数: 0 h-index: 0机构: Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, Wales Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesDavies, Sally论文数: 0 引用数: 0 h-index: 0机构: Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, Wales Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesGibbon, Frances论文数: 0 引用数: 0 h-index: 0机构: Univ Wales Hosp, Dept Paediat Neurol, Cardiff CF14 4XW, S Glam, Wales Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesNaude, Johann Te Water论文数: 0 引用数: 0 h-index: 0机构: Univ Wales Hosp, Dept Paediat Neurol, Cardiff CF14 4XW, S Glam, Wales Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesHartley, Louise论文数: 0 引用数: 0 h-index: 0机构: Univ Wales Hosp, Dept Paediat Neurol, Cardiff CF14 4XW, S Glam, Wales Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesThomas, Gareth论文数: 0 引用数: 0 h-index: 0机构: Abertawe Bro Morgannwg Univ, Morriston Hosp, Dept Paediat Neurol, Hlth Board, Swansea SA6 6NL, W Glam, Wales Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesWhite, Catharine论文数: 0 引用数: 0 h-index: 0机构: Abertawe Bro Morgannwg Univ, Morriston Hosp, Dept Paediat Neurol, Hlth Board, Swansea SA6 6NL, W Glam, Wales Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesNatarajan, Jaya论文数: 0 引用数: 0 h-index: 0机构: Cwm Taf Univ, Royal Glamorgan Hosp, Dept Paediat, Hlth Board, Pontyclun CF72 8XR, Mid Glamorgan, England Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesThomas, Rhys H.论文数: 0 引用数: 0 h-index: 0机构: Univ Wales Hosp, Welsh Epilepsy Ctr, Neurosci Directorate, Cardiff CF14 4XW, S Glam, Wales Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesDrew, Cheney论文数: 0 引用数: 0 h-index: 0机构: Swansea Univ, Inst Life Sci, Coll Med, Neurol & Mol Neurosci Res, Swansea SA2 8PP, W Glam, Wales Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesChung, Seo-Kyung论文数: 0 引用数: 0 h-index: 0机构: Swansea Univ, Inst Life Sci, Coll Med, Neurol & Mol Neurosci Res, Swansea SA2 8PP, W Glam, Wales Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesRees, Mark I.论文数: 0 引用数: 0 h-index: 0机构: Swansea Univ, Inst Life Sci, Coll Med, Neurol & Mol Neurosci Res, Swansea SA2 8PP, W Glam, Wales Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesHolmans, Peter论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Inst Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff CF24 4HQ, S Glam, Wales Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesOwen, Michael J.论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Inst Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff CF24 4HQ, S Glam, Wales Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesKirov, George论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Inst Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff CF24 4HQ, S Glam, Wales Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesPilz, Daniela T.论文数: 0 引用数: 0 h-index: 0机构: Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, Wales Univ Wales Hosp, Inst Medial Genet, Cardiff CF14 4XW, S Glam, WalesKerr, Michael P.论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Inst Psychol Med & Clin Neurosci, MRC Ctr Neuropsychiat Genet & Genom, Cardiff CF24 4HQ, S Glam, Wales Abertawe Bro Morgannwg Univ NHS Trust, Learning Disabil Directorate, 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