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- [1] Developmental epileptic encephalopathy in DLG4-related synaptopathy[J]. EPILEPSIA, 2024, 65 (04) : 1029 - 1045Kassabian, Benedetta论文数: 0 引用数: 0 h-index: 0机构: European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, Denmark Univ Padua, Dept Neurosci, Neurol Unit, Padua, Italy European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkLevy, Amanda M.论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Kennedy Ctr, Dept Clin Genet, Rigshosp, Copenhagen, Denmark European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkGardella, Elena论文数: 0 引用数: 0 h-index: 0机构: European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, Denmark Univ Southern Denmark, Dept Reg Hlth Res, Odense, Denmark European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkAledo-Serrano, Angel论文数: 0 引用数: 0 h-index: 0机构: Vithas La Milagrosa Univ Hosp, Vithas Hosp Grp, Epilepsy & Neurogenet Unit, Madrid, Spain European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkAnanth, Amitha L.论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Div Pediat Neurol, Birmingham, AL USA European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkBrea-Fernandez, Alejandro J.论文数: 0 引用数: 0 h-index: 0机构: Univ Santiago de Compostela, Ctr Singular Invest Med Mol & Enfermedades Cron Ci, Ctr Invest Biomed Red Enfermedades Raras Inst Salu, Grp Genom & Bioinformat, Santiago De Compostela, Spain Fdn Publ Galega Med Xen, Inst Invest Sanitaria IDIS, Santiago De Compostela, Spain European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkCaumes, Roseline论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Clin Genet, Lille, France European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkChatron, Nicolas论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Serv Genet, Bron, France Univ Lyon, Univ Claude Bernard Lyon 1, Inst NeuroMyoGene, INSERM U1315, Lyon, France European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkDainelli, Alice论文数: 0 引用数: 0 h-index: 0机构: Meyer Childrens Hosp IRCCS, Ist Ricovero & Cura Carattere Sci, Neurosci Dept, European Reference Network EpiCARE, Florence, Italy European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkDe Wachter, Matthias论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Antwerp Univ Hosp, Dept Pediat Neurol, Edegem, Belgium European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkDenomme-Pichon, Anne-Sophie论文数: 0 引用数: 0 h-index: 0机构: Dijon Bourgogne Univ Hosp, Funct Unit Diagnost Innovat Rare Dis, Federat Hosp Univ Medecine TRANSLat & Anomalies De, Dijon, France Univ Burgundy, INSERM, UMR 1231, Genet Anomalies Dev GAD, Dijon, France European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkDye, Thomas J.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Neurol, Cincinnati, OH USA Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkFazzi, Elisa论文数: 0 引用数: 0 h-index: 0机构: Univ Brescia, Dept Clin & Expt Sci, Brescia, Italy Unit Child Neurol & Psychiat, Azienda Socio Sanit Terr ASST Spedali Civili Bresc, Brescia, Italy European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkFelt, Roxanne论文数: 0 引用数: 0 h-index: 0机构: Kaiser Permanente Bellevue Med Ctr, Dept Neurol, Bellevue, WA USA European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkFernandez-Jaen, Alberto论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Quironsalud, Dept Pediat Neurol, Neurogenet Sect, Madrid, Spain Univ Europea, Fac Med, Madrid, Spain European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkFernandez-Prieto, Montse论文数: 0 引用数: 0 h-index: 0机构: Univ Santiago de Compostela, Ctr Singular Invest Med Mol & Enfermedades Cron Ci, Ctr Invest Biomed Red Enfermedades Raras Inst Salu, Grp Genom & Bioinformat, Santiago De Compostela, Spain Fdn Publ Galega Med Xen, Inst Invest Sanitaria IDIS, Santiago De Compostela, Spain European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkGantz, Emily论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Div Pediat Neurol, Birmingham, AL USA European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, Denmark论文数: 引用数: h-index:机构:Gil-Nagel, Antonio论文数: 0 引用数: 0 h-index: 0机构: Ruber Int Hosp, Neurol Dept, Epilepsy Program, Madrid, Spain European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkGomez-Andres, David论文数: 0 引用数: 0 h-index: 0机构: Hosp Universitari Vall dHebron, Vall dHebron Res Inst, Child Neurol Unit, Barcelona, Spain European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkGreiner, Hansel M.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Neurol, Cincinnati, OH USA Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkGuerrini, Renzo论文数: 0 引用数: 0 h-index: 0机构: Meyer Childrens Hosp IRCCS, Ist Ricovero & Cura Carattere Sci, Neurosci Dept, European Reference Network EpiCARE, Florence, Italy European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkHaanpaeae, Maria K.论文数: 0 引用数: 0 h-index: 0机构: Turku Univ Hosp, Dept Genom, Turku, Finland European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkHelin, Minttu论文数: 0 引用数: 0 h-index: 0机构: Turku Univ Hosp, Dept Pediat Neurol, Turku, Finland European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkHoyer, Juliane论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkHurst, Anna C. E.论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Birmingham, AL USA European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkKallish, Staci论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Med, Div Translat Med & Human Genet, Philadelphia, PA USA European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkKarkare, Shefali N.论文数: 0 引用数: 0 h-index: 0机构: Cohen Childrens Med Ctr, Dept Pediat, Div Pediat Neurol, New Hyde Pk, NY USA European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkKhan, Amjad论文数: 0 引用数: 0 h-index: 0机构: Univ Lakki Marwat, Fac Biol Sci, Dept Zool, Lakki Marwat, Pakistan Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkKleinendorst, Lotte论文数: 0 引用数: 0 h-index: 0机构: Amsterdam Univ Med Ctr UMC, Univ Amsterdam, Dept Human Genet, Amsterdam, Netherlands Univ Amsterdam, Amsterdam Univ Med Ctr UMC, Emma Ctr Personalized Med, Amsterdam, Netherlands European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkKoch, Johannes论文数: 0 引用数: 0 h-index: 0机构: Paracelsus Med Univ, Univ Childrens Hosp, Salzburg, Austria European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkKothare, Sanjeev V.论文数: 0 引用数: 0 h-index: 0机构: Cohen Childrens Med Ctr, Dept Pediat, Div Pediat Neurol, New Hyde Pk, NY USA European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkKoudijs, Suzanna M.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC Sophia Childrens Hosp, Univ Med Ctr Rotterdam, Dept Neurol, Rotterdam, Netherlands Erasmus Med Ctr ENCORE, GRIN Expertise Ctr, Erfelijke Neurocognitieve Ontwikkelingsstoornissen, Rotterdam, Netherlands European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkLagae, Lieven论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Dept Dev & Regenerat, Sect Paediat Neurol, European Reference Network EpiCARE, Leuven, Belgium European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkLakeman, Phillis论文数: 0 引用数: 0 h-index: 0机构: Amsterdam Univ Med Ctr UMC, Univ Amsterdam, Dept Human Genet, Amsterdam, Netherlands European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkLeppig, Kathleen A.论文数: 0 引用数: 0 h-index: 0机构: Kaiser Permanente Washington, Genet Serv, Seattle, WA USA European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkLesca, Gaetan论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Serv Genet, Bron, France Univ Lyon, Univ Claude Bernard Lyon 1, Inst NeuroMyoGene, INSERM U1315, Lyon, France European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkLopergolo, Diego论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Med Surg & Neurosci, Siena, Italy IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Pisa, Italy European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkLusk, Laina论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Epilepsy Neurogenet Initiat, Philadelphia, PA USA European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkMackenzie, Alex论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Univ Ottawa, Fac Med, Ottawa, ON, Canada European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkMei, Davide论文数: 0 引用数: 0 h-index: 0机构: Meyer Childrens Hosp IRCCS, Ist Ricovero & Cura Carattere Sci, Neurosci Dept, European Reference Network EpiCARE, Florence, Italy European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkMoller, Rikke S.论文数: 0 引用数: 0 h-index: 0机构: European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, Denmark Univ Southern Denmark, Dept Reg Hlth Res, Odense, Denmark European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkPereira, Elaine M.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ Vagelos Coll Phys & Surg, New York Presbyterian Morgan Stanley Childrens Hos, Dept Pediat, Div Clin Genet, New York, NY USA European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkPlatzer, Konrad论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Med Ctr, Inst Human Genet, Leipzig, Germany European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkQuelin, Chloe论文数: 0 引用数: 0 h-index: 0机构: CHU Rennes, Dept Med Genet, Rennes, France European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkRevah-Politi, Anya论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Irving Med Ctr, Inst Genom Med, New York, NY USA European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkRheims, Sylvain论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon & Lyon 1 Univ, Dept Funct Neurol & Epileptol, European Reference Network EpiCARE, Lyon, France European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkRodriguez-Palmero, Agusti论文数: 0 引用数: 0 h-index: 0机构: European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkRossi, Andrea论文数: 0 引用数: 0 h-index: 0机构: Unit Child Neurol & Psychiat, Azienda Socio Sanit Terr ASST Spedali Civili Bresc, Brescia, Italy European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, DenmarkSantorelli, Filippo论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Pisa, Italy European Reference Network EpiCARE, Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, Denmark
- [2] A deep intronic DLG4 variant resulting in DLG4-related synaptopathy[J]. CLINICAL GENETICS, 2024, 105 (01) : 77 - 80Levy, Amanda M.论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Kennedy Ctr, Dept Clin Genet, Rigshosp, Copenhagen, Denmark Copenhagen Univ Hosp, Kennedy Ctr, Dept Clin Genet, Rigshosp, Copenhagen, DenmarkGanapathi, Mythily论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Irving Med Ctr, Dept Pathol & Cell Biol, New York, NY USA Copenhagen Univ Hosp, Kennedy Ctr, Dept Clin Genet, Rigshosp, Copenhagen, DenmarkChung, Wendy K. K.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Irving Med Ctr, Dept Pediat, New York, NY USA Copenhagen Univ Hosp, Kennedy Ctr, Dept Clin Genet, Rigshosp, Copenhagen, DenmarkTumer, Zeynep论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Kennedy Ctr, Dept Clin Genet, Rigshosp, Copenhagen, Denmark Univ Copenhagen, Fac Hlth & Med Sci, Dept Clin Med, Copenhagen, Denmark Copenhagen Univ Hosp, Kennedy Ctr, Dept Clin Genet, Rigshospitalet, Gl Landevej 7, DK-2600 Glostrup, Denmark Copenhagen Univ Hosp, Kennedy Ctr, Dept Clin Genet, Rigshosp, Copenhagen, Denmark
- [3] DLG4-related synaptopathy: a new rare brain disorder[J]. GENETICS IN MEDICINE, 2021, 23 (05) : 888 - 899Rodriguez-Palmero, Agusti论文数: 0 引用数: 0 h-index: 0机构: Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, Spain Ctr Biomed Res Rare Dis CIBERER, Madrid, Spain Univ Autonoma Barcelona, Hosp Univ Germans Trias & Pujol, Paediat Neurol Unit, Barcelona, Spain Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainBoerrigter, Melissa Maria论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Rigshosp, Dept Clin Genet, Kennedy Ctr, Copenhagen, Denmark Radboud Univ Nijmegen, Med Ctr, Dept Gastroenterol & Hepatol, Nijmegen, Netherlands Univ Amsterdam, Amsterdam UMC, Dept Clin Genet, Amsterdam, Netherlands Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainGomez-Andres, David论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Vall Hebron, Vall Hebron Res Inst VHIR, Child Neurol Unit, Barcelona, Spain Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainAldinger, Kimberly A.论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA USA Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainMarcos-Alcalde, Inigo论文数: 0 引用数: 0 h-index: 0机构: CSIC UAM, Severo Ochoa Mol Biol Ctr CBM SO, Mol Modelling Grp, Madrid, Spain Francisco de Vitoria Univ, Sch Expt Sci, Biosci Res Inst, Pozuelo De Alarcon, Spain Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainPopp, Bernt论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg FAU, Inst Human Genet, Erlangen, Germany Univ Leipzig Hosp & Clin, Inst Human Genet, Leipzig, Germany Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainEverman, David B.论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC USA Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainLovgren, Alysia Kern论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Broad Ctr Mendelian Genom, Cambridge, MA 02142 USA Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainArpin, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC USA Univ Tours, CHU Tours, Serv Genet, UMR 1253,iBrain,Inserm, Tours, France Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainBahrambeigi, Vahid论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC USA Univ Texas MD Anderson Canc Ctr UTHlth, Grad Sch Biomed Sci, Houston, TX USA Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainBeunders, Gea论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainBisgaard, Anne-Marie论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Rigshosp, Dept Pediat & Adolescent Med, Ctr Rett syndrome, Copenhagen, Denmark Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainBjerregaard, V. A.论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Rigshosp, Dept Clin Genet, Kennedy Ctr, Copenhagen, Denmark Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainBruel, Ange-Line论文数: 0 引用数: 0 h-index: 0机构: Univ Burgundy, CHU Dijon Bourgogne, INSERM UMR1231, FHU TRANSLAD,GAD, Dijon, France Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainChallman, Thomas D.论文数: 0 引用数: 0 h-index: 0机构: Geisinger Autism & Dev Med Inst, Lewisburg, PA USA Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainCogne, Benjamin论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, Nantes, France Univ Nantes, CNRS, INSERM, Inst Thorax, Nantes, France Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainCoubes, Christine论文数: 0 引用数: 0 h-index: 0机构: CHU Montpellier, Dept Genet Med Malad Rares & Med Personnalisee, Montpellier, France Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, Spainde Man, Stella A.论文数: 0 引用数: 0 h-index: 0机构: Amphia Hosp, Dept Pediat, Breda, Netherlands Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainDenomme-Pichon, Anne-Sophie论文数: 0 引用数: 0 h-index: 0机构: Univ Burgundy, CHU Dijon Bourgogne, INSERM UMR1231, FHU TRANSLAD,GAD, Dijon, France Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainDye, Thomas J.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Neurol, Cincinnati, OH 45229 USA Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainElmslie, Frances论文数: 0 引用数: 0 h-index: 0机构: Univ London, St Georges Univ Hosp, South West Thames Reg Genet Serv, London, England Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainFeuk, Lars论文数: 0 引用数: 0 h-index: 0机构: Uppsala Univ, Dept Immunol Genet & Pathol, Sci Life Lab, Uppsala, Sweden Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainGarcia-Minaur, Sixto论文数: 0 引用数: 0 h-index: 0机构: La Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Madrid, Spain Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainGertler, Tracy论文数: 0 引用数: 0 h-index: 0机构: Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pediat, Div Neurol, Chicago, IL 60611 USA Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainGiorgio, Elisa论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Med Sci, Turin, Italy Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainGruchy, Nicolas论文数: 0 引用数: 0 h-index: 0机构: Univ Caen, Biotargen, CHU Caen Clemenceau, Serv Genet, Caen, France Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainHaack, Tobias B.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainHaldeman-Englert, Chad R.论文数: 0 引用数: 0 h-index: 0机构: Mission Fullerton Genet Ctr, Asheville, NC USA Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainHaukanes, Bjorn Ivar论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Dept Med Genet, Bergen, Norway Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainHoyer, Juliane论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg FAU, Inst Human Genet, Erlangen, Germany Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainHurst, Anna C. E.论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Birmingham, AL USA Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainIsidor, Bertrand论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, Nantes, France Univ Nantes, CNRS, INSERM, Inst Thorax, Nantes, France Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainSoller, Maria Johansson论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainKushary, Sulagna论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Irving Med Ctr, Inst Genom Med, New York, NY USA Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainKvarnung, Malin论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainLandau, Yuval E.论文数: 0 引用数: 0 h-index: 0机构: Leumit Hlth Care Serv, Tel Aviv, Israel Schneider Childrens Med Ctr Israel, Metab Dis Serv, Tel Aviv, Israel Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainLeppig, Kathleen A.论文数: 0 引用数: 0 h-index: 0机构: Kaiser Permanente Washington, Genet Serv, Seattle, WA USA Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainLindstrand, Anna论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainKleinendorst, Lotte论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Amsterdam UMC, Dept Clin Genet, Amsterdam, Netherlands Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainMacKenzie, Alex论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON, Canada Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainMandrile, Giorgia论文数: 0 引用数: 0 h-index: 0机构: San Luigi Univ Hosp, Thalassemia Ctr, Orbassano, Italy San Luigi Univ Hosp, Genet Unit, Orbassano, Italy Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainMendelsohn, Bryce A.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, Div Med Genet, San Francisco, CA USA Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainMoghadasi, Setareh论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainMorton, Jenny E.论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens Hosp, Birmingham Womens & Childrens Hosp NHS Fdn Trust, West Midlands Reg Clin Genet Serv, Birmingham, W Midlands, England Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainMoutton, Sebastien论文数: 0 引用数: 0 h-index: 0机构: Univ Burgundy, CHU Dijon Bourgogne, INSERM UMR1231, FHU TRANSLAD,GAD, Dijon, France Maison Sante Protestante Bordeaux Bagatelle, Pole Mere Enfant, CPDPN, Talence, France Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainMueller, Amelie J.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainO'Leary, Melanie论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Broad Ctr Mendelian Genom, Cambridge, MA 02142 USA Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainPacio-Miguez, Marta论文数: 0 引用数: 0 h-index: 0机构: La Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Madrid, Spain Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainPalomares-Bralo, Maria论文数: 0 引用数: 0 h-index: 0机构: La Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Madrid, Spain Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, SpainParikh, Sumit论文数: 0 引用数: 0 h-index: 0机构: Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona, Spain
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