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- [1] Next generation sequencing technologies in the genetic diagnosis of Congenital Myasthenic Syndrome[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 442 - 442Toepf, A.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandAzuma, Y.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandGorokhova, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Aix Marseille, INSERM, Marseille, France Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandO'Connor, E.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandPorter, A.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandLorenzoni, P.论文数: 0 引用数: 0 h-index: 0机构: UFPR, Neurol Hosp Clin, Curitiba, Parana, Brazil Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandMcMacken, G.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandAlrohaif, H.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandHarris, E.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandMueller, J.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandChaouch, A.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandCox, D.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandEvangelista, T.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandMacArthur, D.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandMagnusson, O.论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet, Reykjavik, Iceland Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandNicole, S.论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, INSERM, Paris, France Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandRoos, A.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandSenderek, J.论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Friedrich Baur Inst, Munich, Germany Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandBartoli, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Aix Marseille, INSERM, Marseille, France Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandAbicht, A.论文数: 0 引用数: 0 h-index: 0机构: Med Genet Ctr, Munich, Germany Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandLochmueller, H.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England
- [2] Use of Next-Generation Sequencing as a Diagnostic Tool for Congenital Myasthenic Syndrome[J]. PEDIATRIC NEUROLOGY, 2014, 51 (05) : 717 - 720Das, Alvin S.论文数: 0 引用数: 0 h-index: 0机构: Northeast Ohio Med Univ, Rootstown, OH USA Northeast Ohio Med Univ, Rootstown, OH USAAgamanolis, Dimitri P.论文数: 0 引用数: 0 h-index: 0机构: Akron Childrens Hosp, Dept Pathol & Lab Med, Akron, OH 44308 USA Northeast Ohio Med Univ, Dept Pathol, Rootstown, OH USA Northeast Ohio Med Univ, Rootstown, OH USACohen, Bruce H.论文数: 0 引用数: 0 h-index: 0机构: Akron Childrens Hosp, NeuroDev Sci Ctr, Div Neurol, Akron, OH 44308 USA Northeast Ohio Med Univ, Dept Pediat, Rootstown, OH USA Northeast Ohio Med Univ, Rootstown, OH USA
- [3] Genetic diagnosis of rett syndrome by Next Generation Sequencing[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 354 - 355Vidal, S.论文数: 0 引用数: 0 h-index: 0机构: Fundacio St Joan de Deu, Esplugas de Llobregat, Spain Fundacio St Joan de Deu, Esplugas de Llobregat, SpainBrandi, N. M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ St Joan de Deu, Serv Genet Bioquim & Rett, Esplugas de Llobregat, Spain Fundacio St Joan de Deu, Esplugas de Llobregat, SpainPacheco, P.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ St Joan de Deu, Serv Genet Bioquim & Rett, Esplugas de Llobregat, Spain Fundacio St Joan de Deu, Esplugas de Llobregat, SpainGerotina, E.论文数: 0 引用数: 0 h-index: 0机构: Fundacio St Joan de Deu, Esplugas de Llobregat, Spain Fundacio St Joan de Deu, Esplugas de Llobregat, SpainBlasco, L.论文数: 0 引用数: 0 h-index: 0机构: Fundacio St Joan de Deu, Esplugas de Llobregat, Spain Fundacio St Joan de Deu, Esplugas de Llobregat, SpainGarcia, A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ St Joan de Deu, Neurol, Esplugas de Llobregat, Spain Fundacio St Joan de Deu, Esplugas de Llobregat, SpainO'Callaghan, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ St Joan de Deu, Neurol, Esplugas de Llobregat, Spain Fundacio St Joan de Deu, Esplugas de Llobregat, SpainGean, E.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ St Joan de Deu, Genet Clin, Esplugas de Llobregat, Spain Fundacio St Joan de Deu, Esplugas de Llobregat, SpainPineda, M.论文数: 0 引用数: 0 h-index: 0机构: Fundacio St Joan de Deu, Esplugas de Llobregat, Spain Fundacio St Joan de Deu, Esplugas de Llobregat, SpainArmstrong, J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ St Joan de Deu, Serv Genet Bioquim & Rett, Esplugas de Llobregat, Spain Fundacio St Joan de Deu, Esplugas de Llobregat, Spain
- [4] A COMPARISON OF ARRAY TECHNOLOGIES AND NEXT GENERATION SEQUENCING TECHNOLOGIES IN PRECONCEPTION GENETIC DIAGNOSIS[J]. FERTILITY AND STERILITY, 2012, 98 (03) : S195 - S195Bisignano, A.论文数: 0 引用数: 0 h-index: 0机构: Recombine, New York, NY USA Recombine, New York, NY USAKetterson, K.论文数: 0 引用数: 0 h-index: 0机构: Recombine & Reprogenet, Livingston, NJ USA Recombine, New York, NY USAFischer, J.论文数: 0 引用数: 0 h-index: 0机构: Recombine & Reprogenet, Livingston, NJ USA Recombine, New York, NY USAWells, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Inst Reprod Sci, Oxford, Oxon, England Recombine, New York, NY USAHorcajadas, J.论文数: 0 引用数: 0 h-index: 0机构: Recombine EU, Alicante, Spain Recombine, New York, NY USABush, E.论文数: 0 引用数: 0 h-index: 0机构: Recombine, New York, NY USA Recombine, New York, NY USA
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