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- [2] De novo 8p23.1 deletion in a patient with absence epilepsy[J]. EPILEPTIC DISORDERS, 2017, 19 (02) : 217 - 221Akcakaya, Nihan Hande论文数: 0 引用数: 0 h-index: 0机构: Aziz Sancar Inst Expt Med, Genet, Istanbul, Turkey Aziz Sancar Inst Expt Med, Genet, Istanbul, TurkeyCapan, Ozlem Yalcin论文数: 0 引用数: 0 h-index: 0机构: Bogazici Univ, Dept Biol & Genet, Istanbul, Turkey Arel Univ, Dept Mol Biol & Genet, Istanbul, Turkey Aziz Sancar Inst Expt Med, Genet, Istanbul, TurkeySchulz, Herbert论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Cologne Ctr Genom, Cologne, Germany Aziz Sancar Inst Expt Med, Genet, Istanbul, TurkeySander, Thomas论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Cologne Ctr Genom, Cologne, Germany Aziz Sancar Inst Expt Med, Genet, Istanbul, TurkeyCaglayan, Server Hande论文数: 0 引用数: 0 h-index: 0机构: Bogazici Univ, Dept Biol & Genet, Istanbul, Turkey Aziz Sancar Inst Expt Med, Genet, Istanbul, TurkeyYapici, Zuhal论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Istanbul Fac Med, Dept Neurol, Istanbul, Turkey Aziz Sancar Inst Expt Med, Genet, Istanbul, Turkey
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PLOS ONE, 2012, 7 (09):Alonso-Perez, Elisa论文数: 0 引用数: 0 h-index: 0机构: Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Lab Invest 10, Santiago De Compostela, Spain Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Rheumatol Unit, Santiago De Compostela, Spain Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Lab Invest 10, Santiago De Compostela, SpainSuarez-Gestal, Marian论文数: 0 引用数: 0 h-index: 0机构: Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Lab Invest 10, Santiago De Compostela, Spain Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Rheumatol Unit, Santiago De Compostela, Spain Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Lab Invest 10, Santiago De Compostela, SpainCalaza, Manuel论文数: 0 引用数: 0 h-index: 0机构: Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Lab Invest 10, Santiago De Compostela, Spain Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Rheumatol Unit, Santiago De Compostela, Spain Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Lab Invest 10, Santiago De Compostela, SpainOrdi-Ros, Josep论文数: 0 引用数: 0 h-index: 0机构: Hosp Valle De Hebron, Res Lab Autoimmune Dis, Barcelona, Spain Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Lab Invest 10, Santiago De Compostela, SpainBalada, Eva论文数: 0 引用数: 0 h-index: 0机构: Hosp Valle De Hebron, Res Lab Autoimmune Dis, Barcelona, Spain Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Lab Invest 10, Santiago De Compostela, SpainBijl, Marc论文数: 0 引用数: 0 h-index: 0机构: Martini Hosp, Dept Internal Med & Rheumatol, Groningen, Netherlands Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Lab Invest 10, Santiago De Compostela, SpainPapasteriades, Chryssa论文数: 0 引用数: 0 h-index: 0机构: Evangelismos Med Ctr, Dept Histocompatibil & Immunol, Athens, Greece Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Lab Invest 10, Santiago De Compostela, SpainCarreira, Patricia论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre, Dept Rheumatol, E-28041 Madrid, Spain Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Lab Invest 10, Santiago De Compostela, SpainSkopouli, Fotini N.论文数: 0 引用数: 0 h-index: 0机构: Univ Athens, Sch Med, Dept Pathophysiol, GR-11527 Athens, Greece Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Lab Invest 10, Santiago De Compostela, SpainWitte, Torsten论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Dept Internal Med, Div Clin Immunol, D-3000 Hannover, Germany Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Lab Invest 10, Santiago De Compostela, SpainEndreffy, Emoeke论文数: 0 引用数: 0 h-index: 0机构: Univ Szeged, Albert Szent Gyorgyi Med Ctr, Dept Paediat, Szeged, Hungary Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Lab Invest 10, Santiago De Compostela, SpainMarchini, Maurizio论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda Osped Maggiore Policlin, Referral Ctr Syst Autoimmune Dis, Milan, Italy Univ Milan, Milan, Italy Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Lab Invest 10, Santiago De Compostela, SpainMigliaresi, Sergio论文数: 0 引用数: 0 h-index: 0机构: Univ Naples 2, Rheumatol Unit, Naples, Italy Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Lab Invest 10, Santiago De Compostela, SpainSebastiani, Gian Domenico论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped San Camillo Forlanini, UOC Reumatol, Rome, Italy Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Lab Invest 10, Santiago De Compostela, SpainSantos, Maria Jose论文数: 0 引用数: 0 h-index: 0机构: Hosp Garcia de Orta, Dept Rheumatol, Lisbon, Portugal Inst Mol Med, Rheumatol Res Unit, Lisbon, Portugal Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Lab Invest 10, Santiago De Compostela, SpainSuarez, Ana论文数: 0 引用数: 0 h-index: 0机构: Univ Oviedo, Hosp Univ Cent Asturias, Dept Funct Biol, Oviedo, Spain Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Lab Invest 10, Santiago De Compostela, SpainBlanco, Francisco J.论文数: 0 引用数: 0 h-index: 0机构: INIBIC CH Univ A Coruna, La Coruna, Spain Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Lab Invest 10, Santiago De Compostela, SpainBarizzone, Nadia论文数: 0 引用数: 0 h-index: 0机构: Eastern Piedmont Univ, Dept Med Sci, Novara, Italy Eastern Piedmont Univ, IRCAD, Novara, Italy Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Lab Invest 10, Santiago De Compostela, SpainPullmann, Rudolf论文数: 0 引用数: 0 h-index: 0机构: Martin Fac Hosp, Jessenius Med Fac, Inst Clin Biochem, Martin, Slovakia Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Lab Invest 10, Santiago De Compostela, SpainRuzickova, Sarka论文数: 0 引用数: 0 h-index: 0机构: Acad Sci Czech Republic, Inst Biotechnol, Prague, Czech Republic Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Lab Invest 10, Santiago De Compostela, SpainLauwerys, Bernard R.论文数: 0 引用数: 0 h-index: 0机构: Clin Univ St Luc, B-1200 Brussels, Belgium Catholic Univ Louvain, B-1200 Brussels, Belgium Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Lab Invest 10, Santiago De Compostela, SpainGomez-Reino, Juan J.论文数: 0 引用数: 0 h-index: 0机构: Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Lab Invest 10, Santiago De Compostela, Spain Univ Santiago, Hosp Clin, Inst Invest Sanitaria, Rheumatol 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- [5] 8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161A (03) : 487 - 500Barber, John C. K.论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Southampton Gen Hosp, Dept Human Genet & Genom Med, Fac Med, Southampton SO16 6YD, Hants, England Univ Southampton, Southampton Gen Hosp, Dept Human Genet & Genom Med, Fac Med, Southampton SO16 6YD, Hants, EnglandRosenfeld, Jill A.论文数: 0 引用数: 0 h-index: 0机构: PerkinElmer Inc, Signature Genom Labs, Spokane, WA USA Univ Southampton, Southampton Gen Hosp, Dept Human Genet & Genom Med, Fac Med, Southampton SO16 6YD, Hants, EnglandFoulds, Nicola论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Fdn Trust, Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England Univ Southampton, Southampton Gen Hosp, Dept Human Genet & Genom Med, Fac Med, Southampton SO16 6YD, Hants, EnglandLaird, Sophie论文数: 0 引用数: 0 h-index: 0机构: Salisbury NHS Fdn Trust, Wessex Reg Genet Lab, Salisbury, Wilts, England Univ Southampton, Southampton Gen Hosp, Dept Human Genet & Genom Med, Fac Med, Southampton SO16 6YD, Hants, EnglandBateman, Mark S.论文数: 0 引用数: 0 h-index: 0机构: Salisbury NHS Fdn Trust, Wessex Reg Genet Lab, Salisbury, Wilts, England Univ Southampton, Southampton Gen Hosp, Dept Human Genet & Genom Med, Fac Med, Southampton SO16 6YD, Hants, EnglandThomas, N. Simon论文数: 0 引用数: 0 h-index: 0机构: Salisbury NHS Fdn Trust, Wessex Reg Genet Lab, Salisbury, Wilts, England Univ Southampton, Southampton Gen Hosp, Dept Human Genet & Genom Med, Fac Med, Southampton SO16 6YD, Hants, EnglandBaker, Samantha论文数: 0 引用数: 0 h-index: 0机构: Salisbury NHS Fdn Trust, Wessex Reg Genet Lab, Salisbury, Wilts, England Univ Southampton, Southampton Gen Hosp, Dept Human Genet & Genom Med, Fac Med, Southampton SO16 6YD, Hants, EnglandMaloney, Viv K.论文数: 0 引用数: 0 h-index: 0机构: Salisbury NHS Fdn Trust, Wessex Reg Genet Lab, Salisbury, Wilts, England Univ Southampton, Southampton Gen Hosp, Dept Human Genet & Genom Med, Fac Med, Southampton SO16 6YD, Hants, EnglandAnilkumar, Arayamparambil论文数: 0 引用数: 0 h-index: 0机构: Geisinger Med Ctr, Dept Pediat Neurol, Danville, PA 17822 USA Univ Southampton, Southampton Gen Hosp, Dept Human Genet & Genom Med, Fac Med, Southampton SO16 6YD, Hants, EnglandSmith, Wendy E.论文数: 0 引用数: 0 h-index: 0机构: Maine Pediat Specialty Grp, Portland, ME USA Univ Southampton, Southampton Gen Hosp, Dept Human Genet & Genom Med, Fac Med, Southampton SO16 6YD, Hants, EnglandBanks, Valerie论文数: 0 引用数: 0 h-index: 0机构: Maine Pediat Specialty Grp, Portland, ME USA Univ Southampton, Southampton Gen Hosp, Dept Human Genet & Genom Med, Fac Med, Southampton SO16 6YD, Hants, EnglandEllingwood, Sara论文数: 0 引用数: 0 h-index: 0机构: Maine Pediat Specialty Grp, Portland, ME USA Univ Southampton, Southampton Gen Hosp, Dept Human Genet & Genom Med, Fac Med, Southampton SO16 6YD, Hants, EnglandKharbutli, Yara论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Med Ctr, Dept Genet & Genom Sci, New York, NY 10029 USA Univ Southampton, Southampton Gen Hosp, Dept Human Genet & Genom Med, Fac Med, Southampton SO16 6YD, Hants, EnglandMehta, Lakshmi论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Med Ctr, Dept Genet & Genom Sci, New York, NY 10029 USA Univ Southampton, Southampton Gen Hosp, Dept Human Genet & Genom Med, Fac Med, Southampton SO16 6YD, Hants, EnglandEddleman, Keith A.论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Med Ctr, Dept Genet & Genom Sci, New York, NY 10029 USA Univ Southampton, Southampton Gen Hosp, Dept Human Genet & Genom Med, Fac Med, Southampton SO16 6YD, Hants, EnglandMarble, Michael论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp New Orleans, New Orleans, LA USA Univ Southampton, Southampton Gen Hosp, Dept Human Genet & Genom Med, Fac Med, Southampton SO16 6YD, Hants, EnglandZambrano, Regina论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp New Orleans, New Orleans, LA USA Univ Southampton, Southampton Gen Hosp, Dept Human Genet & Genom Med, Fac Med, Southampton SO16 6YD, Hants, EnglandCrolla, John A.论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Southampton Gen Hosp, Dept Human Genet & Genom Med, Fac Med, Southampton SO16 6YD, Hants, England Salisbury NHS Fdn Trust, Wessex Reg Genet Lab, Salisbury, Wilts, England Salisbury NHS Fdn Trust, Natl Genet Reference Lab Wessex, Salisbury, Wilts, England Univ Southampton, Southampton Gen Hosp, Dept Human Genet & Genom Med, Fac Med, Southampton SO16 6YD, Hants, EnglandLamb, Allen N.论文数: 0 引用数: 0 h-index: 0机构: PerkinElmer Inc, Signature Genom Labs, Spokane, WA USA Univ Southampton, Southampton Gen Hosp, Dept Human Genet & Genom Med, Fac Med, Southampton SO16 6YD, Hants, England
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