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- [33] Clinical and Genetic Characteristics of Two Cases With Developmental and Epileptic Encephalopathy 93 Caused by Novel ATP6V1A Mutations and Literature ReviewHUMAN MUTATION, 2024, 2024Ma, Jian论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Childrens Hosp, Jinan Childrens Hosp, Pediat Res Inst, Jinan, Peoples R China Shandong Univ, Childrens Hosp, Jinan Childrens Hosp, Pediat Res Inst, Jinan, Peoples R ChinaZhang, Hongwei论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Childrens Hosp, Jinan Childrens Hosp, Pediat Neurol Dept, Jinan, Peoples R China Shandong Univ, Childrens Hosp, Jinan Childrens Hosp, Pediat Res Inst, Jinan, Peoples R ChinaLv, Yuqiang论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Childrens Hosp, Jinan Childrens Hosp, Pediat Res Inst, Jinan, Peoples R China Shandong Univ, Childrens Hosp, Jinan Childrens Hosp, Pediat Res Inst, Jinan, Peoples R ChinaGao, Min论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Childrens Hosp, Jinan Childrens Hosp, Pediat Res Inst, Jinan, Peoples R China Shandong Univ, Childrens Hosp, Jinan Childrens Hosp, Pediat Res Inst, Jinan, Peoples R ChinaGai, Zhongtao论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Childrens Hosp, Jinan Childrens Hosp, Pediat Res Inst, Jinan, Peoples R China Shandong Prov Clin Res Ctr Childrens Hlth & Dis, Jinan, Peoples R China Shandong Univ, Childrens Hosp, Jinan Childrens Hosp, Pediat Res Inst, Jinan, Peoples R ChinaLiu, Yi论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Childrens Hosp, Jinan Childrens Hosp, Pediat Res Inst, Jinan, Peoples R China Shandong Prov Clin Res Ctr Childrens Hlth & Dis, Jinan, Peoples R China Shandong Univ, Childrens Hosp, Jinan Childrens Hosp, Pediat Res Inst, Jinan, Peoples R China
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- [39] Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraineJournal of Human Genetics, 2007, 52 : 990 - 998Maria-José Castro论文数: 0 引用数: 0 h-index: 0机构: Universidade do Porto,Instituto de Ciências Biomédicas Abel SalazarAnine H. Stam论文数: 0 引用数: 0 h-index: 0机构: Universidade do Porto,Instituto de Ciências Biomédicas Abel SalazarCarolina Lemos论文数: 0 引用数: 0 h-index: 0机构: Universidade do Porto,Instituto de Ciências Biomédicas Abel SalazarJosé Barros论文数: 0 引用数: 0 h-index: 0机构: Universidade do Porto,Instituto de Ciências Biomédicas Abel SalazarRaquel G. Gouveia论文数: 0 引用数: 0 h-index: 0机构: Universidade do Porto,Instituto de Ciências Biomédicas Abel SalazarIsabel Pavão Martins论文数: 0 引用数: 0 h-index: 0机构: Universidade do Porto,Instituto de Ciências Biomédicas Abel SalazarJan B. Koenderink论文数: 0 引用数: 0 h-index: 0机构: Universidade do Porto,Instituto de Ciências Biomédicas Abel SalazarKaate R. J. Vanmolkot论文数: 0 引用数: 0 h-index: 0机构: Universidade do Porto,Instituto de Ciências Biomédicas Abel SalazarAlexandre P. Mendes论文数: 0 引用数: 0 h-index: 0机构: Universidade do Porto,Instituto de Ciências Biomédicas Abel SalazarRune R. Frants论文数: 0 引用数: 0 h-index: 0机构: Universidade do Porto,Instituto de Ciências Biomédicas Abel SalazarMichel D. Ferrari论文数: 0 引用数: 0 h-index: 0机构: Universidade do Porto,Instituto de Ciências Biomédicas Abel SalazarJorge Sequeiros论文数: 0 引用数: 0 h-index: 0机构: Universidade do Porto,Instituto de Ciências Biomédicas Abel SalazarJosé M. Pereira-Monteiro论文数: 0 引用数: 0 h-index: 0机构: Universidade do Porto,Instituto de Ciências Biomédicas Abel SalazarArn M. J. M. van den Maagdenberg论文数: 0 引用数: 0 h-index: 0机构: Universidade do Porto,Instituto de Ciências Biomédicas Abel Salazar
- [40] Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathyJournal of Human Genetics, 2015, 60 : 97 - 101Hirofumi Kodera论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsHitoshi Osaka论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsMizue Iai论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsNoriko Aida论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsAkio Yamashita论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsYoshinori Tsurusaki论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsMitsuko Nakashima论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsNoriko Miyake论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsHirotomo Saitsu论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsNaomichi Matsumoto论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human Genetics