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- [42] Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective studyCLINICAL GENETICS, 2015, 88 (01) : 34 - 40Dyment, D. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Dept Genet, Ottawa, ON K1H 8L1, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Dept Genet, Ottawa, ON K1H 8L1, CanadaTetreault, M.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal, PQ, Canada Genome Quebec Innovat Ctr, Montreal, PQ, Canada McGill Univ, Dept Human Genet, Montreal, PQ, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Dept Genet, Ottawa, ON K1H 8L1, CanadaBeaulieu, C. L.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Dept Genet, Ottawa, ON K1H 8L1, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Dept Genet, Ottawa, ON K1H 8L1, CanadaHartley, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Dept Genet, Ottawa, ON K1H 8L1, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Dept Genet, Ottawa, ON K1H 8L1, CanadaFerreira, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Dept Med Genet, Calgary, AB, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Dept Genet, Ottawa, ON K1H 8L1, CanadaChardon, J. W.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Dept Genet, Ottawa, ON K1H 8L1, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Dept Genet, Ottawa, ON K1H 8L1, CanadaMarcadier, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Dept Genet, Ottawa, ON K1H 8L1, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Dept Genet, Ottawa, ON K1H 8L1, CanadaSawyer, S. L.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Dept Genet, Ottawa, ON K1H 8L1, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Dept Genet, Ottawa, ON K1H 8L1, CanadaMosca, S. J.论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Dept Med Genet, Calgary, AB, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Dept Genet, Ottawa, ON K1H 8L1, CanadaInnes, A. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Dept Med Genet, Calgary, AB, Canada Univ Calgary, Alberta Childrens Hosp, Res Inst Child & Maternal Hlth, Calgary, AB, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Dept Genet, Ottawa, ON K1H 8L1, CanadaParboosingh, J. S.论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Dept Med Genet, Calgary, AB, Canada Univ Calgary, Alberta Childrens Hosp, Res Inst Child & Maternal Hlth, Calgary, AB, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Dept Genet, Ottawa, ON K1H 8L1, CanadaBulman, D. E.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Dept Genet, Ottawa, ON K1H 8L1, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Dept Genet, Ottawa, ON K1H 8L1, CanadaSchwartzentruber, J.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal, PQ, Canada Genome Quebec Innovat Ctr, Montreal, PQ, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Dept Genet, Ottawa, ON K1H 8L1, CanadaMajewski, J.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Human Genet, Montreal, PQ, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Dept Genet, Ottawa, ON K1H 8L1, CanadaTarnopolsky, M.论文数: 0 引用数: 0 h-index: 0机构: McMaster Childrens Hosp, Dept Pediat, Hamilton, ON, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Dept Genet, Ottawa, ON K1H 8L1, CanadaBoycott, K. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Dept Genet, Ottawa, ON K1H 8L1, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Dept Genet, Ottawa, ON K1H 8L1, Canada
- [43] Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysisEye, 2018, 32 : 1359 - 1364Xigui Long论文数: 0 引用数: 0 h-index: 0机构: Central South University,Center for Medical Genetics, School of Life SciencesYanru Huang论文数: 0 引用数: 0 h-index: 0机构: Central South University,Center for Medical Genetics, School of Life SciencesHu Tan论文数: 0 引用数: 0 h-index: 0机构: Central South University,Center for Medical Genetics, School of Life SciencesZhuo Li论文数: 0 引用数: 0 h-index: 0机构: Central South University,Center for Medical Genetics, School of Life SciencesRui Zhang论文数: 0 引用数: 0 h-index: 0机构: Central South University,Center for Medical Genetics, School of Life SciencesSiyuan Linpeng论文数: 0 引用数: 0 h-index: 0机构: Central South University,Center for Medical Genetics, School of Life SciencesWeigang Lv论文数: 0 引用数: 0 h-index: 0机构: Central South University,Center for Medical Genetics, School of Life SciencesYingxi Cao论文数: 0 引用数: 0 h-index: 0机构: Central South University,Center for Medical Genetics, School of Life SciencesHaoxian Li论文数: 0 引用数: 0 h-index: 0机构: Central South University,Center for Medical Genetics, School of Life SciencesDesheng Liang论文数: 0 引用数: 0 h-index: 0机构: Central South University,Center for Medical Genetics, School of Life SciencesLingqian Wu论文数: 0 引用数: 0 h-index: 0机构: Central South University,Center for Medical Genetics, School of Life Sciences
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- [45] Whole-exome sequencing in a cohort of Chinese patients with isolated cervical dystoniaHELIYON, 2024, 10 (11)Wu, Rui论文数: 0 引用数: 0 h-index: 0机构: Fourth Mil Med Univ, Xijing Hosp, Dept Neurol, 15 Changle West Rd, Xian 710032, Shaanxi, Peoples R China Fourth Xian Hosp, Xian Peoples Hosp, Dept Neurol, Xian 710004, Peoples R China Fourth Mil Med Univ, Xijing Hosp, Dept Neurol, 15 Changle West Rd, Xian 710032, Shaanxi, Peoples R ChinaChen, Wen -Tian论文数: 0 引用数: 0 h-index: 0机构: Northwest Univ, Coll Life Sci, Lab Funct Glyc, Xian 710069, Peoples R China Fourth Mil Med Univ, Xijing Hosp, Dept Neurol, 15 Changle West Rd, Xian 710032, Shaanxi, Peoples R ChinaDou, Wei-Kang论文数: 0 引用数: 0 h-index: 0机构: Fourth Mil Med Univ, Xijing Hosp, Dept Neurol, 15 Changle West Rd, Xian 710032, Shaanxi, Peoples R China Fourth Mil Med Univ, Xijing Hosp, Dept Neurol, 15 Changle West Rd, Xian 710032, Shaanxi, Peoples R ChinaZhou, Hui-Min论文数: 0 引用数: 0 h-index: 0机构: Fourth Mil Med Univ, Xijing Hosp, Dept Neurol, 15 Changle West Rd, Xian 710032, Shaanxi, Peoples R China Fourth Mil Med Univ, Xijing Hosp, Dept Neurol, 15 Changle West Rd, Xian 710032, Shaanxi, Peoples R ChinaShi, Ming论文数: 0 引用数: 0 h-index: 0机构: Fourth Mil Med Univ, Xijing Hosp, Dept Neurol, 15 Changle West Rd, Xian 710032, Shaanxi, Peoples R China Fourth Mil Med Univ, Xijing Hosp, Dept Neurol, 15 Changle West Rd, Xian 710032, Shaanxi, Peoples R China
- [46] Whole-exome sequencing has revealed novel genetic characteristics in intracranial germ cell tumours in the ChineseHISTOPATHOLOGY, 2024, 84 (07) : 1199 - 1211Huang, Xiang论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Shanghai Med Coll, Dept Neurosurg, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R China Fudan Univ, Neurosurg Inst, Shanghai, Peoples R China Shanghai Clin Med Ctr Neurosurg, Shanghai, Peoples R China Natl Ctr Neurol Disorders, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Shanghai Med Coll, Dept Neurosurg, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R ChinaHuang, Jianhan论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Shanghai Med Coll, Dept Neurosurg, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R China Fudan Univ, Neurosurg Inst, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Shanghai Med Coll, Dept Neurosurg, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R ChinaZhou, Xiaoyu论文数: 0 引用数: 0 h-index: 0机构: GenomiCare Biotechnol Shanghai Co Ltd, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Shanghai Med Coll, Dept Neurosurg, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R ChinaZhang, Chao论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Shanghai Med Coll, Dept Neurosurg, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R China Fudan Univ, Neurosurg Inst, Shanghai, Peoples R China Shanghai Clin Med Ctr Neurosurg, Shanghai, Peoples R China Natl Ctr Neurol Disorders, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Shanghai Med Coll, Dept Neurosurg, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R ChinaDing, Xinghua论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Shanghai Med Coll, Dept Neurosurg, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R China Fudan Univ, Neurosurg Inst, Shanghai, Peoples R China Shanghai Clin Med Ctr Neurosurg, Shanghai, Peoples R China Natl Ctr Neurol Disorders, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Shanghai Med Coll, Dept Neurosurg, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R ChinaWong, Peter Jih Cheng论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Shanghai Med Coll, Dept Neurosurg, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R China Fudan Univ, Neurosurg Inst, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Shanghai Med Coll, Dept Neurosurg, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R ChinaWang, Yang论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Radiotherapy, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Shanghai Med Coll, Dept Neurosurg, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R ChinaZhang, Rong论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Shanghai Med Coll, Dept Neurosurg, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R China Fudan Univ, Neurosurg Inst, Shanghai, Peoples R China Shanghai Clin Med Ctr Neurosurg, Shanghai, Peoples R China Natl Ctr Neurol Disorders, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Shanghai Med Coll, Dept Neurosurg, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R China
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Genet Dev & Neuropsychiat Disorders, BioX Inst,Minist Educ, Shanghai, Peoples R ChinaZhou, Zhuochao论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Ruijin Hosp, Dept Rheumatol & Immunol, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Collaborat Innovat Ctr Brain Sci, Key Lab Genet Dev & Neuropsychiat Disorders, BioX Inst,Minist Educ, Shanghai, Peoples R ChinaYou, Yijun论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Ruijin Hosp, Dept Rheumatol & Immunol, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Collaborat Innovat Ctr Brain Sci, Key Lab Genet Dev & Neuropsychiat Disorders, BioX Inst,Minist Educ, Shanghai, Peoples R ChinaHe, Dongyi论文数: 0 引用数: 0 h-index: 0机构: Shanghai Univ Tradit Chinese Med, Guanghua Hosp, Dept Rheumatol, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Collaborat Innovat Ctr Brain Sci, Key Lab Genet Dev & Neuropsychiat Disorders, BioX Inst,Minist Educ, Shanghai, Peoples R ChinaZhu, Xiaoxia论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Div Rheumatol, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Collaborat Innovat Ctr Brain Sci, Key Lab Genet Dev & Neuropsychiat Disorders, BioX Inst,Minist Educ, Shanghai, Peoples R ChinaJiang, Lindi论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Zhongshan Hosp, Dept Rheumatol, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Collaborat Innovat Ctr Brain Sci, Key Lab Genet Dev & Neuropsychiat Disorders, BioX Inst,Minist Educ, Shanghai, Peoples R ChinaLu, Cui论文数: 0 引用数: 0 h-index: 0机构: Shanghai Songjiang Dist Cent Hosp, Dept Haematol & Rheumatol, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Collaborat Innovat Ctr Brain Sci, Key Lab Genet Dev & Neuropsychiat Disorders, BioX Inst,Minist Educ, Shanghai, Peoples R ChinaWu, Lijun论文数: 0 引用数: 0 h-index: 0机构: Peoples Hosp Xinjiang Uygur Autonomous Reg, Dept Rheumatol & Immunol, Urumqi, Xinjiang, Peoples R China Shanghai Jiao Tong Univ, Collaborat Innovat Ctr Brain Sci, Key Lab Genet Dev & Neuropsychiat Disorders, BioX Inst,Minist Educ, Shanghai, Peoples R ChinaWang, Hongzhi论文数: 0 引用数: 0 h-index: 0机构: Jiaxing Univ, Hosp Jiaxing 1, Dept Oncol, Affiliated Hosp, Jiaxing, Zhejiang, Peoples R China Shanghai Jiao Tong Univ, Collaborat Innovat Ctr Brain Sci, Key Lab Genet Dev & Neuropsychiat Disorders, BioX Inst,Minist Educ, Shanghai, Peoples R ChinaMei, Hanying论文数: 0 引用数: 0 h-index: 0机构: Nanchang Univ, Dept Rheumatol & Immunol, Affiliated Jiujiang Hosp, Jiujiang, Jiangxi, Peoples R China Shanghai Jiao Tong Univ, Collaborat Innovat Ctr Brain Sci, Key Lab Genet Dev & Neuropsychiat Disorders, BioX Inst,Minist Educ, Shanghai, Peoples R ChinaZeng, Ting论文数: 0 引用数: 0 h-index: 0机构: Xinhua Hosp, Rheumatol Dept, Chongming Branch, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Collaborat Innovat Ctr Brain Sci, Key Lab Genet Dev & Neuropsychiat Disorders, BioX Inst,Minist Educ, Shanghai, Peoples R ChinaZheng, Hui论文数: 0 引用数: 0 h-index: 0机构: Shandong First Med Univ, Dept Pathol, Affiliated Hosp 2, Tai An, Shandong, Peoples R China Shanghai Jiao Tong Univ, Collaborat Innovat Ctr Brain Sci, Key Lab Genet Dev & Neuropsychiat Disorders, BioX Inst,Minist Educ, Shanghai, Peoples R ChinaTeng, Jialing论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Ruijin Hosp, Dept Rheumatol & Immunol, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Collaborat Innovat Ctr Brain Sci, Key Lab Genet Dev & Neuropsychiat Disorders, BioX Inst,Minist Educ, Shanghai, Peoples R ChinaLiu, Honglei论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Ruijin Hosp, Dept Rheumatol & Immunol, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Collaborat Innovat Ctr Brain Sci, Key Lab Genet Dev & Neuropsychiat Disorders, BioX Inst,Minist Educ, Shanghai, Peoples R ChinaCheng, Xiaobing论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Ruijin Hosp, Dept Rheumatol & Immunol, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Collaborat Innovat Ctr Brain Sci, Key Lab Genet Dev & Neuropsychiat Disorders, 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