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- [42] A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 geneNEUROLOGY, 2000, 55 (11) : 1697 - 1703Nagamitsu, S论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Neurol, Houston, TX 77030 USAMatsuura, T论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Neurol, Houston, TX 77030 USAKhajavi, M论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Neurol, Houston, TX 77030 USAArmstrong, R论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Neurol, Houston, TX 77030 USAGooch, C论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Neurol, Houston, TX 77030 USAHarati, Y论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Neurol, Houston, TX 77030 USAAshizawa, T论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Neurol, Houston, TX 77030 USA
- [43] Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorderHUMAN MUTATION, 2022, 43 (04) : 487 - 498Natera-de Benito, Daniel论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England Hosp St Joan de Deu, Neuromuscular Unit, Dept Neurol, Barcelona, Spain UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandJurgens, Julie A.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Ctr Mendelian Genom, Cambridge, MA 02142 USA Boston Childrens Hosp, Dept Neurol, Boston, MA USA Harvard Med Sch, Boston, MA 02115 USA Boston Childrens Hosp, Kirby Neurobiol Ctr, Boston, MA USA UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandYeung, Alison论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Parkville, Vic, Australia Univ Melbourne, Dept Paediat, Parkville, Vic, Australia UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandZaharieva, Irina T.论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandManzur, Adnan论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandDiTroia, Stephanie P.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Ctr Mendelian Genom, Cambridge, MA 02142 USA UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandDi Gioia, Silvio Alessandro论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Ctr Mendelian Genom, Cambridge, MA 02142 USA Boston Childrens Hosp, Dept Neurol, Boston, MA USA Harvard Med Sch, Boston, MA 02115 USA Boston Childrens Hosp, Kirby Neurobiol Ctr, Boston, MA USA UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandPais, Lynn论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Ctr Mendelian Genom, Cambridge, MA 02142 USA UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandPini, Veronica论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandBarry, Brenda J.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Neurol, Boston, MA USA Harvard Med Sch, Boston, MA 02115 USA Howard Hughes Med Inst, Chevy Chase, MD USA UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandChan, Wai-Man论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Ctr Mendelian Genom, Cambridge, MA 02142 USA Boston Childrens Hosp, Dept Neurol, Boston, MA USA Harvard Med Sch, Boston, MA 02115 USA Boston Childrens Hosp, Kirby Neurobiol Ctr, Boston, MA USA Howard Hughes Med Inst, Chevy Chase, MD USA UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Hay, Eleanor论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, North East Thames Reg Genet Serv, Dept Clin Genet, London, England UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandEngland, Eleina M.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Ctr Mendelian Genom, Cambridge, MA 02142 USA UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandMunot, Pinki论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandHunter, David G.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston, MA 02115 USA Boston Childrens Hosp, Dept Ophthalmol, Boston, MA USA UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandFeng, Lucy论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandLedoux, Danielle论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston, MA 02115 USA Boston Childrens Hosp, Dept Ophthalmol, Boston, MA USA UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandO'Donnell-Luria, Anne论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Ctr Mendelian Genom, Cambridge, MA 02142 USA Harvard Med Sch, Boston, MA 02115 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandPhadke, Rahul论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandEngle, Elizabeth C.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Ctr Mendelian Genom, Cambridge, MA 02142 USA Boston Childrens Hosp, Dept Neurol, Boston, MA USA Harvard Med Sch, Boston, MA 02115 USA Boston Childrens Hosp, Kirby Neurobiol Ctr, Boston, MA USA Howard Hughes Med Inst, Chevy Chase, MD USA Boston Childrens Hosp, Dept Ophthalmol, Boston, MA USA UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandSarkozy, Anna论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandMuntoni, Francesco论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England UCL Inst Neurol, Ctr Neuromuscular Dis, London, England UCL Great Ormond St Inst Child Hlth, NIHR Great Ormond St Hosp Biomed Res Ctr, London, England Great Ormond St Hosp Children NHS Fdn Trust, London, England UCL Great Ormond St Hosp, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England
- [44] Mutations in TNK2 in Severe Autosomal Recessive Infantile Onset EpilepsyANNALS OF NEUROLOGY, 2013, 74 (03) : 496 - 501Hitomi, Yuki论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Duke Ctr Human Genome Variat, Durham, NC USA Duke Univ, Sch Med, Duke Ctr Human Genome Variat, Durham, NC USAHeinzen, Erin L.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Duke Ctr Human Genome Variat, Durham, NC USA Duke Univ, Sch Med, Duke Ctr Human Genome Variat, Durham, NC USADonatello, Simona论文数: 0 引用数: 0 h-index: 0机构: Univ Libre Bruxelles, Lab Expt Neurol, B-1070 Brussels, Belgium Duke Univ, Sch Med, Duke Ctr Human Genome Variat, Durham, NC USADahl, Hans-Henrik论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, Australia Duke Univ, Sch Med, Duke Ctr Human Genome Variat, Durham, NC USADamiano, John A.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, Australia Duke Univ, Sch Med, Duke Ctr Human Genome Variat, Durham, NC USAMcMahon, Jacinta M.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, Australia Duke Univ, Sch Med, Duke Ctr Human Genome Variat, Durham, NC USABerkovic, Samuel F.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, Australia Duke Univ, Sch Med, Duke Ctr Human Genome Variat, Durham, NC USAScheffer, Ingrid E.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, Australia Florey Inst, Melbourne, Vic, Australia Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Melbourne, Vic, Australia Duke Univ, Sch Med, Duke Ctr Human Genome Variat, Durham, NC USALegros, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Univ Libre Bruxelles, Hop Erasme, Dept Neurol, B-1070 Brussels, Belgium Duke Univ, Sch Med, Duke Ctr Human Genome Variat, Durham, NC USARai, Myriam论文数: 0 引用数: 0 h-index: 0机构: Univ Libre Bruxelles, Lab Expt Neurol, B-1070 Brussels, Belgium Duke Univ, Sch Med, Duke Ctr Human Genome Variat, Durham, NC USAWeckhuysen, Sarah论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp VIB, Dept Mol Genet, Neurogenet Grp, B-2610 Antwerp, Belgium Univ Antwerp, Inst Born Bunge, Neurogenet Lab, B-2020 Antwerp, Belgium Duke Univ, Sch Med, Duke Ctr Human Genome Variat, Durham, NC USA论文数: 引用数: h-index:机构:De Jonghe, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp VIB, Dept Mol Genet, Neurogenet Grp, B-2610 Antwerp, Belgium Univ Antwerp, Inst Born Bunge, Neurogenet Lab, B-2020 Antwerp, Belgium Duke Univ, Sch Med, Duke Ctr Human Genome Variat, Durham, NC USAPandolfo, Massimo论文数: 0 引用数: 0 h-index: 0机构: Univ Libre Bruxelles, Lab Expt Neurol, B-1070 Brussels, Belgium Univ Libre Bruxelles, Hop Erasme, Dept Neurol, B-1070 Brussels, Belgium Duke Univ, Sch Med, Duke Ctr Human Genome Variat, Durham, NC USAGoldstein, David B.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Duke Ctr Human Genome Variat, Durham, NC USA Duke Univ, Sch Med, Duke Ctr Human Genome Variat, Durham, NC USAVan Bogaert, Patrick论文数: 0 引用数: 0 h-index: 0机构: Free Univ Brussels, Erasme Hosp, Dept Neuropediat, B-1050 Brussels, Belgium Duke Univ, Sch Med, Duke Ctr Human Genome Variat, Durham, NC USADepondt, Chantal论文数: 0 引用数: 0 h-index: 0机构: Univ Libre Bruxelles, Lab Expt Neurol, B-1070 Brussels, Belgium Univ Libre Bruxelles, Hop Erasme, Dept Neurol, B-1070 Brussels, Belgium Duke Univ, Sch Med, Duke Ctr Human Genome Variat, Durham, NC USA
- [45] Regulatory region mutations of TERT, PLEKHS1 and GPR126 genes as urinary biomarkers in upper tract urothelial carcinomasJOURNAL OF CANCER, 2021, 12 (13): : 3853 - 3861Xing, Xiangling论文数: 0 引用数: 0 h-index: 0机构: Karolinsk Inst, Bioclinicum, Div Hematol, Dept Med, SE-17176 Stockholm, Sweden Karolinsk Inst, Ctr Mol Med CMM, SE-17176 Stockholm, Sweden Karolinska Univ Hosp Solna, SE-17176 Stockholm, Sweden Karolinsk Inst, Bioclinicum, Div Hematol, Dept Med, SE-17176 Stockholm, SwedenYuan, Xiaotian论文数: 0 引用数: 0 h-index: 0机构: Karolinsk Inst, Bioclinicum, Div Hematol, Dept Med, SE-17176 Stockholm, Sweden Karolinsk Inst, Ctr Mol Med CMM, SE-17176 Stockholm, Sweden Karolinska Univ Hosp Solna, SE-17176 Stockholm, Sweden Karolinsk Inst, Bioclinicum, Div Hematol, Dept Med, SE-17176 Stockholm, SwedenLiu, Tiantian论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Sch Basic Med Sci, Pathol Dept, Jinan, Peoples R China Karolinsk Inst, Bioclinicum, Div Hematol, Dept Med, SE-17176 Stockholm, SwedenDai, Mingkai论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Hosp 2, Cheeloo Coll Med, Cent Res Lab, Jinan 250033, Peoples R China Karolinsk Inst, Bioclinicum, Div Hematol, Dept Med, SE-17176 Stockholm, SwedenFan, Yidong论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Qilu Hosp, Cheeloo Coll Med, Dept Urol, Jinan 250012, Peoples R China Karolinsk Inst, Bioclinicum, Div Hematol, Dept Med, SE-17176 Stockholm, SwedenLiu, Cheng论文数: 0 引用数: 0 h-index: 0机构: Peking Univ Third Hosp, Dept Urol, Beijing, Peoples R China Karolinsk Inst, Bioclinicum, Div Hematol, Dept Med, SE-17176 Stockholm, SwedenStraat, Klas论文数: 0 引用数: 0 h-index: 0机构: Karolinsk Inst, Bioclinicum, Div Hematol, Dept Med, SE-17176 Stockholm, Sweden Karolinsk Inst, Ctr Mol Med CMM, SE-17176 Stockholm, Sweden Karolinska Univ Hosp Solna, SE-17176 Stockholm, Sweden Karolinsk Inst, Bioclinicum, Div Hematol, Dept Med, SE-17176 Stockholm, SwedenBjorkholm, Magnus论文数: 0 引用数: 0 h-index: 0机构: Karolinsk Inst, Bioclinicum, Div Hematol, Dept Med, SE-17176 Stockholm, Sweden Karolinsk Inst, Ctr Mol Med CMM, SE-17176 Stockholm, Sweden Karolinska Univ Hosp Solna, SE-17176 Stockholm, Sweden Karolinsk Inst, Bioclinicum, Div Hematol, Dept Med, SE-17176 Stockholm, SwedenXu, Dawei论文数: 0 引用数: 0 h-index: 0机构: Karolinsk Inst, Bioclinicum, Div Hematol, Dept Med, SE-17176 Stockholm, Sweden Karolinsk Inst, Ctr Mol Med CMM, SE-17176 Stockholm, Sweden Karolinska Univ Hosp Solna, SE-17176 Stockholm, Sweden Karolinsk Inst, Bioclinicum, Div Hematol, Dept Med, SE-17176 Stockholm, Sweden
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