학술논문


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'학술논문' 에서 검색결과 97건 | 목록 1~20
Academic Journal
Savage SK; Invitae Corporation, San Francisco, CA, United States.; LoTempio J; Institute for Clinical and Translational Science, University of California, Irvine, CA, United States.; Smith ED; Invitae Corporation, San Francisco, CA, United States.; Andrew EH; Division of Genetics and Metabolism, Children's National Rare Disease Institute, Washington, DC, United States.; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, United States.; Mas G; Invitae Corporation, San Francisco, CA, United States.; Kahn-Kirby AH; Invitae Corporation, San Francisco, CA, United States.; Institute for Clinical and Translational Science, University of California, Irvine, CA, United States.; Délot E; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, United States.; Department of Genomics and Precision Medicine, George Washington University, Washington, DC, United States.; Cohen AJ; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, United States.; Pitsava G; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, United States.; Nussbaum R; Invitae Corporation, San Francisco, CA, United States.; Fusaro VA; Invitae Corporation, San Francisco, CA, United States.; Institute for Clinical and Translational Science, University of California, Irvine, CA, United States.; Berger S; Division of Genetics and Metabolism, Children's National Rare Disease Institute, Washington, DC, United States.; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, United States.; Department of Genomics and Precision Medicine, George Washington University, Washington, DC, United States.; Vilain E; Institute for Clinical and Translational Science, University of California, Irvine, CA, United States.; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, United States.; Department of Genomics and Precision Medicine, George Washington University, Washington, DC, United States.
Publisher: Oxford University Press Country of Publication: England NLM ID: 9430800 Publication Model: Print Cited Medium: Internet ISSN: 1527-974X (Electronic) Linking ISSN: 10675027 NLM ISO Abbreviation: J Am Med Inform Assoc Subsets: MEDLINE
Academic Journal
Matuozzo, DanielaTalouarn, EstelleMarchal, AstridZhang, PengManry, JeremySeeleuthner, YoannZhang, YuBolze, AlexandreChaldebas, MatthieuMilisavljevic, BaptisteGervais, AdrianBastard, PaulAsano, TakakiBizien, LucyBarzaghi, FedericaAbolhassani, HassanTayoun, Ahmad AbouAiuti, AlessandroDarazam, Ilad AlaviAllende, Luis M.Alonso-Arias, RebecaArias, Andrés AugustoAytekin, GokhanBergman, PeterBondesan, SimoneBryceson, Yenan T.Bustos, Ingrid G.Cabrera-Marante, OscarCarcel, SheilaCarrera, PaolaCasari, GiorgioChaïbi, KhalilColobran, RogerCondino-Neto, AntonioCovill, Laura E.Delmonte, Ottavia M.Zein, Loubna ElFlores, CarlosGregersen, Peter K.Gut, MartaHaerynck, FilomeenHalwani, RabihHancerli, SeldaHammarström, LennartHatipoğlu, NevinKarbuz, AdemKeles, SevgiKyheng, ChristèleLeon-Lopez, RafaelFranco, Jose LuisMansouri, DavoodMartinez-Picado, JavierAkcan, Ozge MetinMigeotte, IsabelleMorange, Pierre-EmmanuelMorelle, GuillaumeMartin-Nalda, AndreaNovelli, GiuseppeNovelli, AntonioOzcelik, TayfunPalabiyik, FigenPan-Hammarström, Qiangde Diego, Rebeca PérezPlanas-Serra, LauraPleguezuelo, Daniel E.Prando, CarolinaPujol, AuroraReyes, Luis FelipeRivière, Jacques G.Rodriguez-Gallego, CarlosRojas, JulianRovere-Querini, PatriziaSchlüter, AgathaShahrooei, MohammadSobh, AliSoler-Palacin, PereTandjaoui-Lambiotte, YacineTipu, ImranTresoldi, CristinaTroya, Jesusvan de Beek, DiederikZatz, MayanaZawadzki, PawelAl-Muhsen, Saleh ZaidAlosaimi, Mohammed FarajAlsohime, Fahad M.Baris-Feldman, HagitButte, Manish J.Constantinescu, Stefan N.Cooper, Megan A.Dalgard, Clifton L.Fellay, JacquesHeath, James R.Lau, Yu-LungLifton, Richard P.Maniatis, TomMogensen, Trine H.von Bernuth, HorstLermine, AlbanVidaud, MichelBoland, AnneDeleuze, Jean-FrançoisNussbaum, RobertKahn-Kirby, AmandaMentre, FranceTubiana, SarahGorochov, GuyTubach, FlorenceHausfater, PierreMeyts, IsabelleZhang, Shen-YingPuel, AnneNotarangelo, Luigi D.Boisson-Dupuis, StephanieSu, Helen C.Boisson, BertrandJouanguy, EmmanuelleCasanova, Jean-LaurentZhang, QianAbel, LaurentCobat, Aurélie
Genome Medicine. 16(1)
Academic Journal
Monica H. WojcikChloe M. ReuterShruti MarwahaMedhat MahmoudMichael H. DuyzendHayk BarseghyanBo YuanPhilip M. BooneEmily E. GroopmanEmmanuèle C. DélotDeepti JainAlba Sanchis-JuanSiwaar AbouhalaJessica AlbertMiguel AlmalvezRaquel AlvarezMutaz AminPeter AndersonSwaroop AradhyaEuan AshleyThemistocles AssimesLight AurigaChristina Austin-TseMike BamshadSamantha BaxterSairam BeheraShaghayegh BeheshtiGill BejeranoSeth BergerJon BernsteinSabrina BestBenjamin BlankenmeisterElizabeth BlueEric BoerwinkleEmily BonkowskiDevon BonnerPhilip BooneMiriam BornhorstTugce Bozkurt-YozgatliHarrison BrandKati BuckinghamDaniel CalameSilvia CasadeiLisa ChadwickClarisa ChavezZiwei ChenIvan ChinnJessica ChongZeynep Coban-AkdemirAndrea J. CohenSarah ConnerMatthew ConomosKaren CovelerYa Allen CuiSara CurrinRobert DaberZain DardasColleen DavisMoez DawoodIvan de DiosCeline de EschMeghan DelaneyEmmanuèle DélotStephanie DiTroiaHarsha DoddapaneniHaowei DuRuizhi DuanShannon Dugan-PerezNhat DuongMichael DuyzendEvan EichlerSara EmamiJawid FatihJamie FraserVincent FusaroMiranda GaleyVijay GaneshKiran GarimellaRichard GibbsCasey GiffordAmy GinsburgPagé GoddardStephanie GogartenNikhita GogateWilliam GordonJohn E. GorzynskiWilliam GreenleafChristopher GrochowskiEmily GroopmanRodrigo Guarischi SousaSanna GudmundssonAshima GulatiDaniel GuoWalker HaleStacey HallWilliam HarveyMegan HawleyBen HeavnerIsabella HermanMartha Horike-PyneJianhong HuYongqing HuangJames HwangGail JarvikTanner JensenShalini JhangianiDavid Jimenez-MoralesChristopher JinAhmed K. SaadAmanda Kahn-KirbyJessica KainParneet KaurLaura KeehanSusan KnoblachArthur KoJennefer KohlerAnshul KundajeSoumya KunduSamuel M. LancasterKatie LarssonGabrielle LemireRichard LewisWei LiYidan LiPengfei LiuJonathan LoTempioJames LupskiJialan MaDaniel MacArthurNirav MalaniBrian MangilogDana MarafiSofia MarmolejosDaniel MartenEva MartinezColby MarvinFrancesco Kumara MastrorosaDena MatalonSusanne MaySean McGeeLauren MeadorHeather MeffordHector Rodrigo MendezAlexander MillerDanny E. MillerTadahiro MitaniStephen MontgomeryHala Mohamed MoussaMariana MoysesChloe MunderlohDonna MuznySarah NelsonMatthew B. NeuJonathan NguyenThuy-mi P. NguyenRobert NussbaumKeith NykampWilliam O'CallaghanEmily O'HeirMelanie O'LearyJeren OlsenIkeoluwa Osei-OwusuAnne O'Donnell-LuriaEvin PadhiLynn PaisMiao PanPiyush PanchalKarynne PattersonSheryl PayneDavut PehlivanPaul PetrowskiAlicia PhamGeorgia PitsavaAstaria PodestaSarah PonceJennifer PoseyJaime ProsserThomas QuertermousArchana RaiArun RamaniHeidi RehmChloe ReuterJason ReuterMatthew RichardsonAndres Rivera-MunozOriane RubioAniko SaboMonica SalaniKaitlin SamochaSarah SavageStuart ScottEvette ScottFritz SedlazeckGulalai ShahAli ShojaieMugdha SinghJosh SmithKevin SmithHana SnowMichael SnyderKayla SocarrasLea StaritaBrigitte StarkSarah StentonAndrew StergachisAdrienne StilpLaksshman SundaramV. Reid SuttonJui-Cheng TaiMichael TalkowskiChristina TiseCatherine TongPhilip TsaoRachel UngarGrace VanNoyEric VilainIsabella VoutosKim WalkerBen WeisburdJeff WeissChris WellingtonZiming WengEmily WestheimerMarsha WheelerMatthew WheelerLaurens WielMichael WilsonMonica WojcikQuenna WongIssac WongChangrui XiaoRachita YadavQian YiJianhua ZhaoJimmy ZhenHarry ZhouLea M. StaritaStephen B. MontgomeryMichael J. BamshadJessica X. ChongMatthew T. WheelerSeth I. BergerFritz J. Sedlazeck
The American Journal of Human Genetics. 110:1229-1248
Academic Journal
Abouhala, SiwaarAlbert, JessicaAlmalvez, MiguelAlvarez, RaquelAmin, MutazAnderson, PeterAradhya, SwaroopAshley, EuanAssimes, ThemistoclesAuriga, LightAustin-Tse, ChristinaBamshad, MikeBarseghyan, HaykBaxter, SamanthaBehera, SairamBeheshti, ShaghayeghBejerano, GillBerger, SethBernstein, JonBest, SabrinaBlankenmeister, BenjaminBlue, ElizabethBoerwinkle, EricBonkowski, EmilyBonner, DevonBoone, PhilipBornhorst, MiriamBrand, HarrisonBuckingham, KatiCalame, DanielCarter, JenneferCasadei, SilviaChadwick, LisaChavez, ClarisaChen, ZiweiChinn, IvanChong, JessicaCoban-Akdemir, ZeynepCohen, Andrea J.Conner, SarahConomos, MatthewCoveler, KarenCui, Ya AllenCurrin, SaraDaber, RobertDardas, ZainDavis, ColleenDawood, Moezde Dios, Ivande Esch, CelineDelaney, MeghanDelot, EmmanueleDiTroia, StephanieDoddapaneni, HarshaDu, HaoweiDuan, RuizhiDugan-Perez, ShannonDuong, NhatDuyzend, MichaelEichler, EvanEmami, SaraFraser, JamieFusaro, VincentGaley, MirandaGanesh, VijayGarcia, BrandonGarimella, KiranGibbs, RichardGifford, CaseyGinsburg, AmyGoddard, PageGogarten, StephanieGogate, NikhitaGordon, WilliamGorzynski, John E.Greenleaf, WilliamGrochowski, ChristopherGroopman, EmilySousa, Rodrigo GuarischiGudmundsson, SannaGulati, AshimaHall, StaceyHarvey, WilliamHawley, MeganHeavner, BenHorike-Pyne, MarthaHu, JianhongHuang, YongqingHwang, JamesJarvik, GailJensen, TannerJhangiani, ShaliniJimenez-Morales, DavidJin, ChristopherSaad, Ahmed K.Kahn-Kirby, AmandaKain, JessicaKaur, ParneetKeehan, LauraKnoblach, SusanKo, ArthurKundaje, AnshulKundu, SoumyaLancaster, Samuel M.Larsson, KatieLee, ArthurLemire, GabrielleLewis, RichardLi, WeiLi, YidanLiu, PengfeiLoTempio, JonathanLupski, James (Jim)Ma, JialanMacArthur, DanielMahmoud, MedhatMalani, NiravMangilog, BrianMarafi, DanaMarmolejos, SofiaMarten, DanielMartinez, EvaMarvin, ColbyMarwaha, ShrutiMastrorosa, Francesco KumaraMatalon, DenaMay, SusanneMcGee, SeanMeador, LaurenMefford, HeatherMendez, Hector RodrigoMiller, AlexanderMiller, Danny E.Mitani, TadahiroMontgomery, StephenMoyses, MarianaMunderloh, ChloeMuzny, DonnaNelson, SarahNguyen, Thuy-mi P.Nguyen, JonathanNussbaum, RobertNykamp, KeithO'Callaghan, WilliamO'Heir, EmilyO'Leary, MelanieOlsen, JerenOsei-Owusu, IkeoluwaO'Donnell-Luria, AnnePadhi, EvinPais, LynnPan, MiaoPanchal, PiyushPatterson, KarynnePayne, SherylPehlivan, DavutPetrowski, PaulPham, AliciaPitsava, GeorgiaPodesta, Astaria`SaraPonce, SarahPorter, ElizabethPosey, JenniferProsser, JaimeQuertermous, ThomasRai, ArchanaRamani, ArunRehm, HeidiReuter, ChloeReuter, JasonRichardson, MatthewRivera-Munoz, AndresRubio, OrianeSabo, AnikoSalani, MonicaSamocha, KaitlinSanchis-Juan, AlbaSavage, SarahScott, EvetteScott, StuartSedlazeck, FritzShah, GulalaiShojaie, AliSingh, MugdhaSmith, KevinSmith, JoshSnow, HanaSnyder, MichaelSocarras, KaylaStarita, LeaStark, BrigitteStenton, SarahStergachis, AndrewStilp, AdrienneSutton, V. ReidTai, Jui-ChengTalkowski, Michael (Mike)Tise, ChristinaTong, Catherine (Cat)Tsao, PhilipUngar, RachelVanNoy, GraceVilain, EricVoutos, IsabellaWalker, KimWei, Chia-LinWeisburd, BenWeiss, JeffWellington, ChrisWeng, ZimingWestheimer, EmilyWheeler, MarshaWheeler, MatthewWiel, LaurensWilson, MichaelWojcik, MonicaWong, QuennaXiao, ChangruiYadav, RachitaYi, QianYuan, BoZhao, JianhuaZhen, JimmyZhou, HarryChong, Jessica X.Berger, Seth I.Smith, EricaCalame, Daniel G.Hawley, Megan H.Rivera-Munoz, E. AndresBamshad, Michael J.Rehm, Heidi L.
In Genetics in Medicine October 2024 26(10)
Academic Journal
Kahn-Kirby AH; BioElectron Technology Corporation, Mountain View, California, United States of America.; Amagata A; BioElectron Technology Corporation, Mountain View, California, United States of America.; Maeder CI; BioElectron Technology Corporation, Mountain View, California, United States of America.; Mei JJ; BioElectron Technology Corporation, Mountain View, California, United States of America.; Sideris S; BioElectron Technology Corporation, Mountain View, California, United States of America.; Kosaka Y; BioElectron Technology Corporation, Mountain View, California, United States of America.; Hinman A; BioElectron Technology Corporation, Mountain View, California, United States of America.; Malone SA; BioElectron Technology Corporation, Mountain View, California, United States of America.; Bruegger JJ; BioElectron Technology Corporation, Mountain View, California, United States of America.; Wang L; BioElectron Technology Corporation, Mountain View, California, United States of America.; Kim V; BioElectron Technology Corporation, Mountain View, California, United States of America.; Shrader WD; BioElectron Technology Corporation, Mountain View, California, United States of America.; Hoff KG; BioElectron Technology Corporation, Mountain View, California, United States of America.; Latham JC; BioElectron Technology Corporation, Mountain View, California, United States of America.; Ashley EA; Stanford Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, California, United States of America.; Wheeler MT; Stanford Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, California, United States of America.; Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Research Hospital, Rome, Italy.; Carrozzo R; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Research Hospital, Rome, Italy.; Martinelli D; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Research Hospital, Rome, Italy.; Dionisi-Vici C; Clinical Division and Research Unit of Metabolic Diseases, Bambino Gesù Children's Hospital, Rome, Italy.; Chapman KA; Children's National Rare Disease Institute, Children's National Health System, Washington, D.C., United States of America.; Enns GM; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California, United States of America.; Gahl W; NIH Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health, Bethesda, Maryland, United States of America.; Wolfe L; NIH Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health, Bethesda, Maryland, United States of America.; Saneto RP; Division of Pediatric Neurology, Department of Neurology, Neuroscience Institute, Seattle Children's Hospital, Seattle, Washington, United States of America.; Johnson SC; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, United States of America.; Department of Neurology, University of Washington, Seattle, Washington, United States of America.; Trimmer JK; BioElectron Technology Corporation, Mountain View, California, United States of America.; Klein MB; BioElectron Technology Corporation, Mountain View, California, United States of America.; Holst CR; BioElectron Technology Corporation, Mountain View, California, United States of America.
Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE
Academic Journal
Daniela MatuozzoEstelle TalouarnAstrid MarchalPeng ZhangJeremy ManryYoann SeeleuthnerYu ZhangAlexandre BolzeMatthieu ChaldebasBaptiste MilisavljevicAdrian GervaisPaul BastardTakaki AsanoLucy BizienFederica BarzaghiHassan AbolhassaniAhmad Abou TayounAlessandro AiutiIlad Alavi DarazamLuis M. AllendeRebeca Alonso-AriasAndrés Augusto AriasGokhan AytekinPeter BergmanSimone BondesanYenan T. BrycesonIngrid G. BustosOscar Cabrera-MaranteSheila CarcelPaola CarreraGiorgio CasariKhalil ChaïbiRoger ColobranAntonio Condino-NetoLaura E. CovillOttavia M. DelmonteLoubna El ZeinCarlos FloresPeter K. GregersenMarta GutFilomeen HaerynckRabih HalwaniSelda HancerliLennart HammarströmNevin HatipoğluAdem KarbuzSevgi KelesChristèle KyhengRafael Leon-LopezJose Luis FrancoDavood MansouriJavier Martinez-PicadoOzge Metin AkcanIsabelle MigeottePierre-Emmanuel MorangeGuillaume MorelleAndrea Martin-NaldaGiuseppe NovelliAntonio NovelliTayfun OzcelikFigen PalabiyikQiang Pan-HammarströmRebeca Pérez de DiegoLaura Planas-SerraDaniel E. PleguezueloCarolina PrandoAurora PujolLuis Felipe ReyesJacques G. RivièreCarlos Rodriguez-GallegoJulian RojasPatrizia Rovere-QueriniAgatha SchlüterMohammad ShahrooeiAli SobhPere Soler-PalacinYacine Tandjaoui-LambiotteImran TipuCristina TresoldiJesus TroyaDiederik van de BeekMayana ZatzPawel ZawadzkiSaleh Zaid Al-MuhsenMohammed Faraj AlosaimiFahad M. AlsohimeHagit Baris-FeldmanManish J. ButteStefan N. ConstantinescuMegan A. CooperClifton L. DalgardJacques FellayJames R. HeathYu-Lung LauRichard P. LiftonTom ManiatisTrine H. MogensenHorst von BernuthAlban LermineMichel VidaudAnne BolandJean-François DeleuzeRobert NussbaumAmanda Kahn-KirbyFrance MentreSarah TubianaGuy GorochovFlorence TubachPierre HausfaterCOVID Human Genetic EffortCOVIDeF Study GroupFrench COVID Cohort Study GroupCoV-Contact CohortCOVID-STORM CliniciansCOVID CliniciansOrchestra Working GroupAmsterdam UMC Covid-19 BiobankNIAID-USUHS COVID Study GroupIsabelle MeytsShen-Ying ZhangAnne PuelLuigi D. NotarangeloStephanie Boisson-DupuisHelen C. SuBertrand BoissonEmmanuelle JouanguyJean-Laurent CasanovaQian ZhangLaurent AbelAurélie Cobat
Genome Medicine, Vol 15, Iss 1, Pp 1-25 (2023)
Academic Journal
Matuozzo, DanielaTalouarn, EstelleMarchal, AstridManry, JeremySeeleuthner, YoannZhang, YuBolze, AlexandreChaldebas, MatthieuMilisavljevic, BaptisteZhang, PengGervais, AdrianBastard, PaulAsano, TakakiBizien, LucyBarzaghi, FedericaAbolhassani, HassanTayoun, Ahmad AbouAiuti, AlessandroDarazam, Ilad AlaviAllende, Luis MAlonso-Arias, RebecaArias, Andrés AugustoAytekin, GokhanBergman, PeterBondesan, SimoneBryceson, Yenan TBustos, Ingrid GCabrera-Marante, OscarCarcel, SheilaCarrera, PaolaCasari, GiorgioChaïbi, KhalilColobran, RogerCondino-Neto, AntonioCovill, Laura EEl Zein, LoubnaFlores, CarlosGregersen, Peter KGut, MartaHaerynck, FilomeenHalwani, RabihHancerli, SeldaHammarström, LennartHatipoğlu, NevinKarbuz, AdemKeles, SevgiKyheng, ChristèleLeon-Lopez, RafaelFranco, Jose LuisMansouri, DavoodMartinez-Picado, JavierAkcan, Ozge MetinMigeotte, IsabelleMorange, Pierre-EmmanuelMorelle, GuillaumeMartin-Nalda, AndreaNovelli, GiuseppeNovelli, AntonioOzcelik, TayfunPalabiyik, FigenPan-Hammarström, QiangPérez de Diego, RebecaPlanas-Serra, LauraPleguezuelo, Daniel EPrando, CarolinaPujol, AuroraReyes, Luis FelipeRivière, Jacques GRodriguez-Gallego, CarlosRojas, JulianRovere-Querini, PatriziaSchlüter, AgathaShahrooei, MohammadSobh, AliSoler-Palacin, PereTandjaoui-Lambiotte, YacineTipu, ImranTresoldi, CristinaTroya, Jesusvan de Beek, DiederikZatz, MayanaZawadzki, PawelAl-Muhsen, Saleh ZaidBaris-Feldman, HagitButte, Manish JConstantinescu, Stefan NCooper, Megan ADalgard, Clifton LFellay, JacquesHeath, James RLau, Yu-LungLifton, Richard PManiatis, TomMogensen, Trine Hvon Bernuth, HorstLermine, AlbanVidaud, MichelBoland, AnneDeleuze, Jean-FrançoisNussbaum, RobertKahn-Kirby, AmandaMentre, FranceTubiana, SarahGorochov, GuyTubach, FlorenceHausfater, PierreMeyts, IsabelleZhang, Shen-YingPuel, AnneNotarangelo, Luigi DBoisson-Dupuis, StephanieSu, Helen CBoisson, BertrandJouanguy, EmmanuelleCasanova, Jean-LaurentZhang, QianAbel, LaurentCobat, Aurélie
Academic Journal
Asano T; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Boisson B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. casanova@rockefeller.edu bebo283@rockefeller.edu.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Onodi F; Laboratory of Genomes & Cell Biology of Disease, INSERM U944, CNRS UMR7212, University of Paris, Research Institute of Saint-Louis, Saint-Louis Hospital, Paris, France.; Matuozzo D; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Moncada-Velez M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Maglorius Renkilaraj MRL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Zhang P; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Meertens L; Laboratory of Genomes & Cell Biology of Disease, INSERM U944, CNRS UMR7212, University of Paris, Research Institute of Saint-Louis, Saint-Louis Hospital, Paris, France.; Bolze A; Helix, San Mateo, CA, USA.; Materna M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Korniotis S; University of Paris, INSERM U976, F-75006 Paris, France.; Gervais A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Talouarn E; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Bigio B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Seeleuthner Y; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Bilguvar K; Yale Center for Genome Analysis and Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Zhang Y; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.; NIAID Clinical Genomics Program, NIH, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.; Neehus AL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Ogishi M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Pelham SJ; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Le Voyer T; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Rosain J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Philippot Q; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Soler-Palacín P; Infection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Colobran R; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Diagnostic Immunology Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Immunology Division, Genetics Department, Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.; Martin-Nalda A; Infection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Rivière JG; Infection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Tandjaoui-Lambiotte Y; AP-HP, Avicenne Hospital, Intensive Care Unit, Bobigny, France.; INSERM U1272 Hypoxia & Lung, Bobigny, France.; Chaïbi K; Anesthesiology and Critical Care Medicine Department, APHP, Avicenne Hospital, Bobigny, France.; Common and Rare Kidney Diseases, Sorbonne University, INSERM UMR-S 1155, Paris, France.; Shahrooei M; Specialized Immunology Laboratory of Dr. Shahrooei, Sina Medical Complex, Ahvaz, Iran.; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium.; Darazam IA; Infectious Diseases and Tropical Medicine Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Department of Infectious Diseases and Tropical Medicine, Loghman Hakim Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Olyaei NA; Specialized Immunology Laboratory of Dr. Shahrooei, Sina Medical Complex, Ahvaz, Iran.; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium.; Mansouri D; Department of Clinical Immunology and Infectious Diseases, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; The Clinical Tuberculosis and Epidemiology Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Masih Daneshvari Hospital, Shahid Beheshti, University of Medical Sciences, Tehran, Iran.; Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti, Iran.; Hatipoğlu N; Pediatric Infectious Diseases Unit, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.; Palabiyik F; Pediatric Infectious Diseases Unit, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.; Ozcelik T; Department of Molecular Biology and Genetics, University of Bilkent, Bilkent-Ankara, Turkey.; Novelli G; Department of Biomedicine and Prevention, University of Rome 'Tor Vergata,' Rome, and Neuromed Institute, IRCCS, Pozzilli (IS), Italy.; Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.; Casari G; Vita-Salute San Raffaele University, Milan, Italy.; Clinical Genomics, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Aiuti A; Vita-Salute San Raffaele University, Milan, Italy.; San Raffaele Telethon Institute for Gene Therapy (SR-Tiget) and Pediatric Immunohematology Unit and BMT Program, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Carrera P; Clinical Genomics, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Bondesan S; Clinical Genomics, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Barzaghi F; San Raffaele Telethon Institute for Gene Therapy (SR-Tiget) and Pediatric Immunohematology Unit and BMT Program, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Rovere-Querini P; Vita-Salute San Raffaele University, Milan, Italy.; Division of Immunology, Transplantation and Infectious Diseases, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Tresoldi C; Molecular Hematology Unit, IRCCS Ospedale San Raffaele, Milan, Italy.; Franco JL; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.; Rojas J; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.; Reyes LF; Universidad de La Sabana, Chia, Colombia.; Bustos IG; Universidad de La Sabana, Chia, Colombia.; Arias AA; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.; School of Microbiology, University of Antioquia UdeA, Medellín, Colombia.; Morelle G; Department of General Pediatrics, Hôpital Bicêtre, AP-HP, University of Paris Saclay, Le Kremlin-Bicêtre, France.; Christèle K; Department of General Pediatrics, Hôpital Bicêtre, AP-HP, University of Paris Saclay, Le Kremlin-Bicêtre, France.; Troya J; Department of Internal Medicine, Infanta Leonor University Hospital, Madrid, Spain.; Planas-Serra L; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain.; Schlüter A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain.; Gut M; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Baldiri Reixac 4, 08028, Barcelona, Spain.; Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain.; Allende LM; Immunology Department, University Hospital 12 de Octubre, Research Institute Hospital 12 de Octubre (I+12), Madrid, Spain.; Complutense University, Madrid, Spain.; Rodriguez-Gallego C; Department of Immunology, University Hospital of Gran Canaria Dr. Negrín, Canarian Health System, Las Palmas de Gran Canaria, Spain.; Department of Clinical Sciences, University of Fernando Pessoa Canarias, Las Palmas de Gran Canaria, Spain.; Flores C; Genomics Division, Institute of Technology and Renewable Energies (ITER), Santa Cruz de Tenerife, Spain.; CIBER de Enfermedades Respiratorias, Health Institute of Carlos III, Madrid, Spain.; Research Unit, University Hospital of N.S. de Candelaria, Santa Cruz de Tenerife, Spain.; Institute of Biomedical technologies (ITB), University of La Laguna, San Cristóbal de La Laguna, Spain.; Cabrera-Marante O; Immunology Department, University Hospital 12 de Octubre, Research Institute Hospital 12 de Octubre (I+12), Madrid, Spain.; Pleguezuelo DE; Immunology Department, University Hospital 12 de Octubre, Research Institute Hospital 12 de Octubre (I+12), Madrid, Spain.; de Diego RP; Institute of Biomedical Research of IdiPAZ, University Hospital 'La Paz', Madrid, Spain.; Keles S; Necmettin Erbakan University, Meram Medical Faculty, Division of Pediatric Allergy and Immunology, Konya, Turkey.; Aytekin G; Konya City Hospital, Division of Allergy and Immunology, Konya, Turkey.; Akcan OM; Necmettin Erbakan University, Meram Medical Faculty, Division of Pediatric Allergy and Immunology, Konya, Turkey.; Bryceson YT; Centre for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institute, Stockholm, Sweden.; Bergman P; Department of Laboratory Medicine, Division of Clinical Microbiology, Karolinska Institute, Stockholm, Sweden.; The Immunodeficiency Unit, Infectious Disease Clinic, Karolinska University Hospital, Stockholm, Sweden.; Brodin P; Science for Life Laboratory, Department of Women's and Children's Health, Karolinska Institute, Solna, Sweden.; Smole D; Central Hospital-Anesthesia and Intensive Care Unit, Karlstad, Sweden.; Smith CIE; Department of Laboratory Medicine, Division of Biomolecular and Cellular Medicine, Karolinska Institute, Stockholm, Sweden.; The Immunodeficiency Unit, Infectious Disease Clinic, Karolinska University Hospital, Stockholm, Sweden.; Norlin AC; The Immunodeficiency Unit, Infectious Disease Clinic, Karolinska University Hospital, Stockholm, Sweden.; Campbell TM; Centre for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institute, Stockholm, Sweden.; Covill LE; Centre for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institute, Stockholm, Sweden.; Hammarström L; Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden.; Pan-Hammarström Q; Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden.; Abolhassani H; Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden.; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.; Mane S; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.; Marr N; Department of Immunology, Research Branch, Sidra Medicine, Doha, Qatar.; Ata M; Department of Immunology, Research Branch, Sidra Medicine, Doha, Qatar.; Al Ali F; Department of Immunology, Research Branch, Sidra Medicine, Doha, Qatar.; Khan T; Department of Immunology, Research Branch, Sidra Medicine, Doha, Qatar.; Spaan AN; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Department of Medical Microbiology, University Medical Center Utrecht, Utrecht, Netherlands.; Dalgard CL; Department of Anatomy, Physiology & Genetics Uniformed Services University of the Health Sciences, Bethesda, MD, USA.; The American Genome Center, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.; Bonfanti P; Department of Infectious Diseases, San Gerardo Hospital-University of Milano-Bicocca, Monza, Italy.; Biondi A; Pediatric Department and Centro Tettamanti-European Reference Network PaedCan, EuroBloodNet, MetabERN-University of Milano-Bicocca-Fondazione MBBM- Ospedale San Gerardo, Monza, Italy.; Tubiana S; Centre d'Investigation Clinique, INSERM CIC 1425, Paris, France.; Hôpital Bichat Claude Bernard, APHP, Paris, France.; Burdet C; Centre d'Investigation Clinique, INSERM CIC 1425, Paris, France.; Université de Paris, IAME, INSERM UMR 1137, Paris, France.; Nussbaum R; Invitae, San Francisco, CA, USA.; Kahn-Kirby A; Invitae, San Francisco, CA, USA.; Snow AL; Department of Pharmacology & Molecular Therapeutics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.; Bustamante J; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, AP-HP, Paris, France, EU.; Puel A; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Boisson-Dupuis S; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Zhang SY; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Béziat V; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Lifton RP; Yale Center for Genome Analysis and Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Laboratory of Genetics and Genomics, The Rockefeller University, New York, NY, USA.; Bastard P; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.; NIAID Clinical Genomics Program, NIH, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.; Abel L; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Su HC; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.; NIAID Clinical Genomics Program, NIH, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Jouanguy E; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Amara A; Laboratory of Genomes & Cell Biology of Disease, INSERM U944, CNRS UMR7212, University of Paris, Research Institute of Saint-Louis, Saint-Louis Hospital, Paris, France.; Soumelis V; University of Paris, INSERM U976, F-75006 Paris, France.; APHP, Hôpital Saint-Louis, Department of Immunology-Histocompatibility, 75010 Paris, France.; Cobat A; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Zhang Q; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. casanova@rockefeller.edu bebo283@rockefeller.edu.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Howard Hughes Medical Institute, New York, NY, USA.
Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101688624 Publication Model: Print Cited Medium: Internet ISSN: 2470-9468 (Electronic) Linking ISSN: 24709468 NLM ISO Abbreviation: Sci Immunol Subsets: MEDLINE
Academic Journal
Asano TBoisson BOnodi FMatuozzo DMoncada-Velez MRenkilaraj MZhang PMeertens LBolze AMaterna MKorniotis SGervais ATalouarn EBigio BSeeleuthner YBilguvar KZhang YNeehus AOgishi MPelham SLe Voyer TRosain JPhilippot QSoler-Palacin PColobran RMartin-Nalda ARiviere JTandjaoui-Lambiotte YChaibi KShahrooei MDarazam IOlyaei NMansouri DPalabiyik FOzcelik TNovelli GNovelli ACasari GAiuti ACarrera PBondesan SBarzaghi FRovere-Querini PTresoldi CFranco JRojas JReyes LBustos IArias AMorelle GKyheng CTroya JPlanas-Serra LSchluter AGut MPujol AAllende LRodriguez-Gallego CFlores CCabrera-Marante OPleguezuelo Dde Diego RKeles SAytekin GAkcan OBryceson YBergman PBrodin PSmole DSmith CNorlin ACampbell TCovill LHammarstrom LPan-Hammarstrom QAbolhassani HMane SMarr NAta MAl Ali FKhan TSpaan ADalgard CBonfanti PBiondi ATubiana SBurdet CNussbaum RKahn-Kirby ASnow ABustamante JPuel ABoisson-Dupuis SZhang SBeziat VLifton RBastard PNotarangelo LAbel LSu HJouanguy EAmara ASoumelis VCobat AZhang QCasanova JCOVID Human Genetic EfftCOVID-STORM ClinicianoCOVID CliniciansImagine COVID GrpFrench COVID Cohort Study GrpCov-Contact CohortAmsterdam UMC Covid-19 BiobankNIAID-USUHS Covid Study Grp
Science immunology
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Academic Journal
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