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- [21] Biallelic truncating &ITFANCM&IT mutations cause early-onset cancer but not Fanconi anemiaGENETICS IN MEDICINE, 2018, 20 (04) : 458 - 463Bogliolo, Massimo论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Dept Genet & Microbiol, Dept Genet, Hosp Santes Creus & St Pau, Barcelona, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain Univ Autonoma Barcelona, Dept Genet & Microbiol, Dept Genet, Hosp Santes Creus & St Pau, Barcelona, SpainBluteau, Dominique论文数: 0 引用数: 0 h-index: 0机构: Hop St Louis, Hematol Lab, INSERM, CNRS,UMR7212,U944, Paris, France Univ Autonoma Barcelona, Dept Genet & Microbiol, Dept Genet, Hosp Santes Creus & St Pau, Barcelona, SpainLespinasse, James论文数: 0 引用数: 0 h-index: 0机构: Chambery Hotel Dieu, Ctr Hosp Metropole Savoie, Genet Chromosom, Chambery, France Univ Autonoma Barcelona, Dept Genet & Microbiol, Dept Genet, Hosp Santes Creus & St Pau, Barcelona, SpainPujol, Roser论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Dept Genet & Microbiol, Dept Genet, Hosp Santes Creus & St Pau, Barcelona, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain Univ Autonoma Barcelona, Dept Genet & Microbiol, Dept Genet, Hosp Santes Creus & St Pau, Barcelona, SpainVasquez, Nadia论文数: 0 引用数: 0 h-index: 0机构: Hop St Louis, Hematol Lab, INSERM, CNRS,UMR7212,U944, Paris, France Univ Autonoma Barcelona, Dept Genet & Microbiol, Dept Genet, Hosp Santes Creus & St Pau, Barcelona, Spaind'Enghien, Catherine Dubois论文数: 0 引用数: 0 h-index: 0机构: Curie Inst, Oncogenet Lab, Paris, France Univ Autonoma Barcelona, Dept Genet & Microbiol, Dept Genet, Hosp Santes Creus & St Pau, Barcelona, SpainStoppa-Lyonnet, Dominique论文数: 0 引用数: 0 h-index: 0机构: Curie Inst, Oncogenet Lab, Paris, France Univ Autonoma Barcelona, Dept Genet & Microbiol, Dept Genet, Hosp Santes Creus & St Pau, Barcelona, SpainLeblanc, Thierry论文数: 0 引用数: 0 h-index: 0机构: Hop Robert Debre, AP HP, Serv Hematol, Paris, France Univ Autonoma Barcelona, Dept Genet & Microbiol, Dept Genet, Hosp Santes Creus & St Pau, Barcelona, SpainSoulier, Jean论文数: 0 引用数: 0 h-index: 0机构: Hop St Louis, Hematol Lab, INSERM, CNRS,UMR7212,U944, Paris, France Univ Autonoma Barcelona, Dept Genet & Microbiol, Dept Genet, Hosp Santes Creus & St Pau, Barcelona, SpainSurralles, Jordi论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Dept Genet & Microbiol, Dept Genet, Hosp Santes Creus & St Pau, Barcelona, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain Univ Autonoma Barcelona, Dept Genet & Microbiol, Dept Genet, Hosp Santes Creus & St Pau, Barcelona, Spain
- [22] 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
- [23] Mutations in KCNA5: a common cause of early-onset lone atrial fibrillation?EUROPEAN HEART JOURNAL, 2011, 32 : 470 - 470Christophersen, I. E.论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Dept Cardiol, Mol Cardiol Lab, Copenhagen, Denmark Copenhagen Univ Hosp, Dept Cardiol, Mol Cardiol Lab, Copenhagen, DenmarkOlesen, M. S.论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Dept Cardiol, Mol Cardiol Lab, Copenhagen, Denmark Copenhagen Univ Hosp, Dept Cardiol, Mol Cardiol Lab, Copenhagen, DenmarkHaunsoe, S.论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Rigshosp, Ctr Heart, Dept Cardiol, Copenhagen, Denmark Copenhagen Univ Hosp, Dept Cardiol, Mol Cardiol Lab, Copenhagen, DenmarkSchmitt, N.论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Danish Arrhythmia Res Ctr DARC Cardiac Arrhythmia, Copenhagen, Denmark Copenhagen Univ Hosp, Dept Cardiol, Mol Cardiol Lab, Copenhagen, DenmarkSvendsen, J. H.论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Rigshosp, Ctr Heart, Cardiac Catheterizat Lab, Copenhagen, Denmark Copenhagen Univ Hosp, Dept Cardiol, Mol Cardiol Lab, Copenhagen, Denmark
- [24] Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathyJOURNAL OF HUMAN GENETICS, 2015, 60 (02) : 97 - 101Kodera, Hirofumi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanOsaka, Hitoshi论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Clin Res Inst, Div Neurol, Yokohama, Kanagawa, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanIai, Mizue论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Clin Res Inst, Div Neurol, Yokohama, Kanagawa, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanAida, Noriko论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Clin Res Inst, Div Radiol, Yokohama, Kanagawa, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanYamashita, Akio论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Sch Med, Dept Mol Biol, Yokohama, Kanagawa 2360004, Japan Grad Sch Med Sci, Yokohama, Kanagawa, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanTsurusaki, Yoshinori论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanNakashima, Mitsuko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanMiyake, Noriko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan论文数: 引用数: h-index:机构:Matsumoto, Naomichi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan
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Leukaemia Invest Prague, Prague, Czech RepublicFejtkova, Martina论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Pediat Haematol & Oncol, CLIP Childhood Leukaemia Invest Prague, Prague, Czech Republic Univ Hosp Motol, V Uvalu 84, Prague 15006 5, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Haematol & Oncol, CLIP Childhood Leukaemia Invest Prague, Prague, Czech RepublicMartinu, Vendula论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Motol, V Uvalu 84, Prague 15006 5, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Haematol & Oncol, CLIP Childhood Leukaemia Invest Prague, Prague, Czech RepublicPaderova, Jana论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Motol, V Uvalu 84, Prague 15006 5, Czech Republic Charles Univ Prague, Fac Med 2, Dept Biol & Med Genet, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Haematol & Oncol, CLIP Childhood Leukaemia Invest Prague, Prague, Czech RepublicSvaton, Michael论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Pediat Haematol & Oncol, CLIP Childhood Leukaemia Invest Prague, Prague, Czech Republic Univ Hosp Motol, V Uvalu 84, Prague 15006 5, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Haematol & Oncol, CLIP Childhood Leukaemia Invest Prague, Prague, Czech RepublicKralova, Jarmila论文数: 0 引用数: 0 h-index: 0机构: Czech Acad Sci, Inst Mol Genet, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Haematol & Oncol, CLIP Childhood Leukaemia Invest Prague, Prague, Czech RepublicFronkova, Eva论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Pediat Haematol & Oncol, CLIP Childhood Leukaemia Invest Prague, Prague, Czech Republic Univ Hosp Motol, V Uvalu 84, Prague 15006 5, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Haematol & Oncol, CLIP Childhood Leukaemia Invest Prague, Prague, Czech RepublicKlocperk, Adam论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Motol, V Uvalu 84, Prague 15006 5, Czech Republic Charles Univ Prague, Fac Med 2, Dept Immunol, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Haematol & Oncol, CLIP Childhood Leukaemia Invest Prague, Prague, Czech RepublicPruhova, Stepanka论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Motol, V Uvalu 84, Prague 15006 5, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Haematol & Oncol, CLIP Childhood Leukaemia Invest Prague, Prague, Czech RepublicLee-Kirsch, Min Ae论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Dresden, Univ Hosp Carl Gustav Carus, Mol Pediat, Dresden, Germany Charles Univ Prague, Fac Med 2, Dept Pediat Haematol & Oncol, CLIP Childhood Leukaemia Invest Prague, Prague, Czech RepublicHornofova, Ludmila论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Motol, V Uvalu 84, Prague 15006 5, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pathol & Mol Med, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Haematol & Oncol, CLIP Childhood Leukaemia Invest Prague, Prague, Czech RepublicKoblizek, Miroslav论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Motol, V Uvalu 84, Prague 15006 5, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pathol & Mol Med, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Haematol & Oncol, CLIP Childhood Leukaemia Invest Prague, Prague, Czech RepublicNovak, Petr论文数: 0 引用数: 0 h-index: 0机构: Acad Sci, Biotechnol & Biomed Ctr, Vestec, Czech Republic Charles Univ Prague, Inst Microbiol, Czech Acad Sci, Vestec, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Haematol & Oncol, CLIP Childhood Leukaemia Invest Prague, Prague, Czech RepublicZimmermannova, Olga论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Pediat Haematol & Oncol, CLIP Childhood Leukaemia Invest Prague, Prague, Czech Republic Univ Hosp Motol, V Uvalu 84, Prague 15006 5, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Haematol & Oncol, CLIP Childhood Leukaemia Invest Prague, Prague, Czech Republic论文数: 引用数: h-index:机构:Sediva, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Motol, V Uvalu 84, Prague 15006 5, Czech Republic Charles Univ Prague, Fac Med 2, Dept Immunol, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Haematol & Oncol, CLIP Childhood Leukaemia Invest Prague, Prague, Czech Republic论文数: 引用数: h-index:机构:Janda, Ales论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ulm, Dept Pediat & Adolescent Med, Ulm, Germany Charles Univ Prague, Fac Med 2, Dept Pediat Haematol & Oncol, CLIP Childhood Leukaemia Invest Prague, Prague, Czech RepublicKayserova, Jana论文数: 0 引用数: 0 h-index: 0机构: Horovice Hosp, Dept Pediat, Horovice, Germany Charles Univ Prague, Fac Med 2, Dept Pediat Haematol & Oncol, CLIP Childhood Leukaemia Invest Prague, Prague, Czech RepublicDvorakova, Marcela论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Motol, V Uvalu 84, Prague 15006 5, Czech Republic Charles Univ Prague, Fac Med 2, Dept Radiol, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Haematol & Oncol, CLIP Childhood Leukaemia Invest Prague, Prague, Czech RepublicMacek, Milan论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Motol, V Uvalu 84, Prague 15006 5, Czech Republic Charles Univ Prague, Fac Med 2, Dept Biol & Med Genet, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Haematol & Oncol, CLIP Childhood Leukaemia Invest Prague, Prague, Czech RepublicPohunek, Petr论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Motol, V Uvalu 84, Prague 15006 5, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Haematol & Oncol, CLIP Childhood Leukaemia Invest Prague, Prague, Czech RepublicSedlacek, Petr论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Pediat Haematol & Oncol, CLIP Childhood Leukaemia Invest Prague, Prague, Czech Republic Univ Hosp Motol, V Uvalu 84, Prague 15006 5, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Haematol & Oncol, 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