학술논문


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'학술논문' 에서 검색결과 922건 | 목록 1~20
Academic Journal
Tran, Alyssa A.Tarakad, ArjunBalasubramanyam, AshokLee, Brendan H.Bacino, Carlos A.Scott, Daryl A.Seto, ElaineClark, Gary D.Dai, HongzhengChao, Hsiao-TuanChinn, IvanOrengo, James P.Posey, Jennifer E.Rosenfeld, Jill A.Worley, KimBurrage, Lindsay C.Emrick, Lisa T.Potocki, LorraineHubshman, Monika WeiszLewis, Richard A.Marom, RonitLalani, Seema R.Ketkar, ShamikaVogel, Tiphanie P.Craigen, William J.Sninsky, JaredBlieden, LaurenNagamani, SandeshBellen, Hugo J.Wangler, Michael F.Kanca, OguzYamamoto, ShinyaEng, Christine M.Ward, Patricia A.Liu, PengfeiVanderver, AdelineSkraban, CaraBehrens, EdwardKilich, GonenchSullivan, KathleenHassey, KellyRajagopalan, RamakrishnanGanetzky, RebeccaCuddapah, VishnuRaper, AnnaRader, Daniel J.Sirugo, GiorgioJobanputra, VaidehiMcConkie-Rosell, AllynSchoch, KellyMikati, MohamadWalley, Nicole M.Spillmann, Rebecca C.Shashi, VandanaBeggs, Alan H.MacRae, Calum A.Sweetser, David A.Rao, Deepak A.Silverman, Edwin K.Fieg, Elizabeth L.High, FrancesBerry, Gerard T.Holm, Ingrid A.Pallais, J. CarlStoler, Joan M.Loscalzo, JosephRodan, Lance H.Cobban, Laurel A.Briere, Lauren C.Coggins, MatthewWalker, MelissaMaas, Richard L.Korrick, SusanDouglas, JessicaEsteves, CeciliaGlanton, EmilyKohane, Isaac S.LeBlanc, KimberlyMahoney, RachelSunyaev, Shamil R.Kobren, Shilpa N.Graham, Brett H.Conboy, ErinVetrini, FrancescoTreat, Kayla M.Liaqat, KhurramMantcheva, LiliWare, Stephanie M.Mitchell, BreannaLanpher, Brendan C.Oglesbee, DevinKlee, EricPinto e Vairo, FilippoLanza, Ian R.Darr, KahlenMulvihill, LindsaySchimmenti, LisaTan, QueenieDasari, SurendraElkadri, AbdulBordini, BrettBasel, DonaldVerbsky, JamesMcCarrier, JulieMuriello, MichaelZimmermann, MichaelRebelo, AdrianaSmith, Carson A.Barbouth, DeborahBademci, GuneyGonzalez, Joanna M.Latchman, KumariePeart, LéShonTekin, MustafaBorja, NicholasZuchner, StephanBivona, StephanieThorson, WillaTaylor, HermanQuarells, Rakale C.Iverson, AyukoGelb, BruceCunningham-Rundles, CharlotteGayle, EricJen, JoannaBier, LouiseBarbosa, MafaldaBalwani, ManishaShadrina, MariyaEvard, RachelShuman, SaskiaShin, SusanGropman, AndreaPusey Swerdzewski, Barbara N.Toro, CamiloWahl, Colleen E.Novacic, DonnaMacnamara, Ellen F.Mulvihill, John J.Acosta, Maria T.D'Souza, PrecillaMaduro, Valerie V.Afzali, BenSolomon, BenTifft, Cynthia J.Adams, David R.Burke, Elizabeth A.Rossignol, FrancisWood, HeidiFu, JiayuDavis, JoiePetcharet, LeoyklangWolfe, Lynne A.Delgado, MargaretMorimoto, MarieSabaii, MarlaMalicdan, MayChristine V.Hanchard, NeilJean-Marie, OrpaIntrone, WendyGahl, William A.Huang, YanStergachis, AndrewMiller, DannyRosenthal, ElisabethBlue, ElizabethBalton, ElsaShelkowitz, EmilyAllenspach, EricHisama, Fuki M.Jarvik, Gail P.Mirzaa, GhaydaGlass, IanLeppig, Kathleen A.Dipple, KatrinaWener, MarkHorike-Pyne, MarthaBamshad, MichaelByers, PeterKumar, RunjunPerlman, SethChanprasert, SirisakSybert, VirginiaRaskind, WendyDargie, Nitsuh K.Chan, Chun-HungBustos Velasq, Dr. FranciscoWard, IsumSchend, JasonMorgan, JenniferBell, MeganLeitheiser, MirandaSaifeddine, MohamadBerger, PaulLi, RachelBeagle, TaylorMiller, AlexanderAnguiano, BeatrizMartin, Beth A.Tucker, BriannaReuter, Chloe M.Bonner, DevonKravets, ElijahMendez, Hector RodrigoTabor, Holly K.Sampson, Jacinda B.Hom, JasonKohler, Jennefer N.Schymick, JenniferGorzynski, John E.Bernstein, Jonathan A.Smith, Kevin S.Keehan, LauraWiel, LaurensWheeler, Matthew T.Halley, Meghan C.Levanto, MiaGoddard, Page C.Fisher, Paul G.Ungar, Rachel A.Alvarez, Raquel L.Emami, SaraMarwaha, ShrutiMontgomery, Stephen B.Bachir, SuhaJensen, Tanner D.Maurer, TaylorCoakley, Terra R.Ashley, Euan A.Al-Beshri, AliHurst, AnnaWilk, Brandon M.Korf, BruceWorthey, Elizabeth A.Callaway, KaitlinRodriguez, MartinSkelton, TammiMamidi, Tarun KK.Crouse, Andrew B.Whitlock, JordanNakano-Okuno, MarikoMight, MatthewByrd, William E.La Spada, Albert R.Xiao, ChangruiChao, Elizabeth C.Vilain, EricAbdenur, JoseBlanco, KirstenSteenari, Maija-RikkaBarrick, RebekahChang, RichardAttaripour, SanazSandmeyer, SuzanneMozaffar, TahseenHuang, AldenVargas, AndresRussell, Bianca E.Fogel, Brent L.Dell'Angelica, Esteban C.Carvalho, GeorgeMartínez-Agosto, Julian A.Abi Farraj, Layal F.Butte, Manish J.Martin, Martin G.Dorrani, NaghmehParker, Neil H.Corona, Rosario I.Nelson, Stanley F.Karasozen, YigitQuinlan, AaronWard, AlistairAndrews, AshleyWelt, Corrine K.Viskochil, DaveBaldwin, Erin E.Carey, JohnAlvey, JustinPace, LauraBotto, LorenzoLongo, NicolaMoretti, PaoloOverbury, RebeccaButterfield, RussellBoyden, StevenNicholas, Thomas J.Velinder, MattMarth, GaborBayrak-Toydemir, PinarMao, RongWesterfield, MonteCorner, BrianPhillips, John A., IIIEzell, KimberlyRives, LynetteHamid, RizwanNeumann, SerenaMcMinn, AshleyCogan, Joy D.Cassini, ThomasPaul, AlexKiley, DanaWegner, DanielMcRoy, ErinWambach, JenniferSisco, KathyDickson, PatriciaCole, F. SessionsBaldridge, DustinShin, JimannSolnica-Krezel, LiliannaPak, Stephen C.Schedl, TimothyBale, AllenOladele, CarolHendry, CarolineWang, EmilyXu, HuaZhang, HuiJeffries, LaurenOrtuño Romero, María JoséGerstein, MarkSpencer-Manzon, MicheleLek, MonkolDerar, NadaKaufman, OdelyaMane, ShrikantSerrano, Teodoro JervesVasiliou, VasilisHalstead, WinstonJiang, Yong-HuiKeehan, Laura A.Ono-Minagi, HitomiHadhud, MohamadRips, JonathanHinds, Daniel M.Fischer, Anthony J.Bartlett, Jennifer A.McCray, Paul B.Qawasmi, NadaNathan, NadiaLouvrier, CamilleDesroziers, TifennDamme, MarkusGriese, MatthiasWegner, Daniel J.Wambach, Jennifer A.Burbelo, Peter D.Bonner, Devon E.Chiorini, John A.Breuer, OdedMilla, Carlos
In Genetics in Medicine January 2026
Academic Journal
Bacino, Carlos A.Balasubramanyam, AshokBurrage, Lindsay C.Chao, Hsiao-TuanChinn, IvanClark, Gary D.Craigen, William J.Dai, HongzhengEmrick, Lisa T.Ketkar, ShamikaLalani, Seema R.Lee, Brendan H.Lewis, Richard A.Marom, RonitOrengo, James P.Posey, Jennifer E.Potocki, LorraineRosenfeld, Jill A.Seto, ElaineScott, Daryl A.Tarakad, ArjunTran, Alyssa A.Vogel, Tiphanie P.Hubshman, Monika WeiszWorley, KimBellen, Hugo J.Wangler, Michael F.Yamamoto, ShinyaKanca, OguzEng, Christine M.Liu, PengfeiWard, Patricia A.Behrens, EdwardFalk, MarniHassey, KellyIzumi, KosukeKilich, GonenchSullivan, KathleenVanderver, AdelineZhang, ZheRaper, AnnaJobanputra, VaidehiMikati, MohamadMcConkie-Rosell, AllynSchoch, KellyShashi, VandanaSpillmann, Rebecca C.Tan, Queenie K.-G.Walley, Nicole M.Beggs, Alan H.Berry, Gerard T.Briere, Lauren C.Cobban, Laurel A.Coggins, MatthewFieg, Elizabeth L.High, FrancesHolm, Ingrid A.Korrick, SusanLoscalzo, JosephMaas, Richard L.MacRae, Calum A.Pallais, J. CarlRao, Deepak A.Rodan, Lance H.Silverman, Edwin K.Stoler, Joan M.Sweetser, David A.Walker, MelissaDouglas, JessicaGlanton, EmilyKobren, Shilpa N.Kohane, Isaac S.LeBlanc, KimberlyMaghiro, Audrey Stephannie C.Mahoney, RachelMcCray, Alexa T.Tan, Amelia L.M.Dasari, SurendraLanpher, Brendan C.Lanza, Ian R.Morava, EvaOglesbee, DevinBademci, GuneyBarbouth, DeborahBivona, StephanieBorja, NicholasGonzalez, Joanna M.Latchman, KumariePeart, LéShonRebelo, AdrianaSmith, Carson A.Tekin, MustafaThorson, WillaZuchner, StephanTaylor, HermanColley, Heather A.Dayal, Jyoti G.Doss, Argenia L.Eckstein, David J.Hutchison, SarahKrasnewich, Donna M.Mamounas, Laura A.Manolio, Teri A.Urv, Tiina K.Acosta, Maria T.D'Souza, PrecillaGropman, AndreaMacnamara, Ellen F.Maduro, Valerie V.Mulvihill, John J.Novacic, DonnaPusey Swerdzewski, Barbara N.Toro, CamiloWahl, Colleen E.Adams, David R.Afzali, BenBurke, Elizabeth A.Davis, JoieDelgado, MargaretFu, JiayuGahl, William A.Hanchard, NeilHuang, YanIntrone, WendyJean-Marie, OrpaMalicdan, May Christine V.Morimoto, MariePetcharet, LeoyklangRossignol, FrancisSabaii, MarlaSolomon, BenTifft, Cynthia J.Wolfe, Lynne A.Wood, HeidiAllworth, AimeeBamshad, MichaelBeck, AnitaBennett, JimmyBlue, ElizabethByers, PeterChanprasert, SirisakCunningham, MichaelDipple, KatrinaDoherty, DanielEarl, DawnGlass, IanHing, AnneHisama, Fuki M.Horike-Pyne, MarthaJarvik, Gail P.Jarvik, JeffreyJayadev, SumanKaitryn, EmeraldLam, ChristinaMiller, DannyMirzaa, GhaydaRaskind, WendyRosenthal, ElizabethShelkowitz, EmilySheppeard, SamStergachis, AndrewSybert, VirginiaWener, MarkWenger, TaraAlvarez, Raquel L.Bejerano, GillBernstein, Jonathan A.Bonner, DevonCoakley, Terra R.Fisher, Paul G.Goddard, Page C.Halley, Meghan C.Hom, JasonKohler, Jennefer N.Kravets, ElijahMartin, Beth A.Marwaha, ShrutiReuter, Chloe M.Ruzhnikov, MauraSampson, Jacinda B.Smith, Kevin S.Sutton, ShirleyTabor, Holly K.Ungar, Rachel A.Wheeler, Matthew T.Ashley, Euan A.Byrd, William E.Crouse, Andrew B.Might, MatthewNakano-Okuno, MarikoWhitlock, JordanButte, Manish J.Corona, RosarioDell'Angelica, Esteban C.Dorrani, NaghmehDouine, Emilie D.Fogel, Brent L.Huang, AldenKrakow, DeborahLoo, Sandra K.Martin, Martin G.Martínez-Agosto, Julian A.McGee, ElisabethNelson, Stanley F.Nieves-Rodriguez, ShirleyPapp, Jeanette C.Parker, Neil H.Renteria, GeneceeSinsheimer, Janet S.Wan, JijunAlvey, JustinAndrews, AshleyBale, JimBohnsack, JohnBotto, LorenzoCarey, JohnLongo, NicolaMoretti, PaoloPace, LauraQuinlan, AaronVelinder, MattViskochil, DaveMarth, GaborBayrak-Toydemir, PinarMao, RongWesterfield, MonteBican, AnnaCassini, ThomasCorner, BrianHamid, RizwanNeumann, SerenaPhillips, John A., IIIRives, LynetteRobertson, Amy K.Ezell, KimberlyCogan, Joy D.Hayes, NicholeKiley, DanaSisco, KathyWambach, JenniferWegner, DanielBaldridge, DustinCole, F. SessionsPak, StephenSchedl, TimothyShin, JimannSolnica-Krezel, LiliannaMoulton, Matthew J.Atala, KristhenZheng, YimingDutta, DebdeepGrange, Dorothy K.Lin, Wen-WenWegner, Daniel J.Wambach, Jennifer A.Duker, Angela L.Bober, Michael B.Kratz, LisaWise, Carol A.Oxendine, IlaKhanshour, AnasRios, Jonathan
In Genetics in Medicine September 2024 26(9)
Academic Journal
Undiagnosed Disease Network, Nil, Z, Deshwar, A R, Barish, S, Zhang, X, Choufani, S, Le Quesne Stabej, P, Hayes, I, Yap, P, Haldeman-Englert, C, Wilson, C, Prescott, T, Tveten, K, Vøllo, A, Haynes, D, Wheeler, P G, Zon, J, Cytrynbaum, C, Jobling, R, Blyth, M, Banka, S, Afenjar, A, Mignot, C, Robin-Renaldo, F, Keren, B, Kanca, O, Mao, X, Wegner, D J, Sisco, K, Shinawi, M, Wangler, M F, Weksberg, R, Yamamoto, S, Costain, G & Bellen, H J 2023, 'Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies', American Journal of Human Genetics, vol. 110, no. 11, pp. 1919-1937. https://doi.org/10.1016/j.ajhg.2023.09.009
Academic Journal
Acosta, Maria T.Adam, MargaretAdams, David R.Alvey, JustinAmendola, LauraAndrews, AshleyAshley, Euan A.Azamian, Mahshid S.Bacino, Carlos A.Bademci, GuneyBalasubramanyam, AshokBaldridge, DustinBale, JimBamshad, MichaelBarbouth, DeborahBayrak-Toydemir, PinarBeck, AnitaBeggs, Alan H.Behrens, EdwardBejerano, GillBellen, Hugo J.Bennet, JimmyBerg-Rood, BeverlyBernstein, Jonathan A.Berry, Gerard T.Bican, AnnaBivona, StephanieBlue, ElizabethBohnsack, JohnBonner, DevonBotto, LorenzoBoyd, BrennaBriere, Lauren C.Brokamp, EllyBrown, GabrielleBurke, Elizabeth A.Burrage, Lindsay C.Butte, Manish J.Byers, PeterByrd, William E.Carey, JohnCarrasquillo, OlveenCassini, ThomasPeter Chang, Ta ChenChanprasert, SirisakChao, Hsiao-TuanClark, Gary D.Coakley, Terra R.Cobban, Laurel A.Cogan, Joy D.Coggins, MatthewCole, F. SessionsColley, Heather A.Cooper, Cynthia M.Cope, HeidiCraigen, William J.Crouse, Andrew B.Cunningham, MichaelD'Souza, PrecillaDai, HongzhengDasari, SurendraDavis, JoieDayal, Jyoti G.Deardorff, MatthewDell'Angelica, Esteban C.Dipple, KatrinaDoherty, DanielDorrani, NaghmehDoss, Argenia L.Douine, Emilie D.Duncan, LauraEarl, DawnEckstein, David J.Emrick, Lisa T.Eng, Christine M.Esteves, CeciliaFalk, MarniFernandez, LilianaFieg, Elizabeth L.Fisher, Paul G.Fogel, Brent L.Forghani, IrmanGahl, William A.Glass, IanGochuico, BernadetteGodfrey, Rena A.Golden-Grant, KatieGoldrich, Madison P.Grajewski, AlanaGutierrez, IrmaHadley, DonHahn, SihounHamid, RizwanHassey, KellyHayes, NicholeHigh, FrancesHing, AnneHisama, Fuki M.Holm, Ingrid A.Hom, JasonHorike-Pyne, MarthaHuang, AldenHuang, YongIntrone, WendyIsasi, RosarioIzumi, KosukeJamal, FarihaJarvik, Gail P.Jarvik, JeffreyJayadev, SumanJean-Marie, OrpaJobanputra, VaidehiKaraviti, LefkotheaKennedy, JenniferKetkar, ShamikaKiley, DanaKilich, GonenchKobren, Shilpa N.Kohane, Isaac S.Kohler, Jennefer N.Krakow, DeborahKrasnewich, Donna M.Kravets, ElijahKorrick, SusanKoziura, MaryLalani, Seema R.Lam, ByronLam, ChristinaLaMoure, Grace L.Lanpher, Brendan C.Lanza, Ian R.LeBlanc, KimberlyLee, Brendan H.Levitt, RoyLewis, Richard A.Liu, PengfeiLiu, Xue ZhongLongo, NicolaLoo, Sandra K.Loscalzo, JosephMaas, Richard L.Macnamara, Ellen F.MacRae, Calum A.Maduro, Valerie V.Mahoney, RachelMak, Bryan C.Malicdan, May Christine V.Mamounas, Laura A.Manolio, Teri A.Mao, RongMaravilla, KennethMarom, RonitMarth, GaborMartin, Beth A.Martin, Martin G.Martínez-Agosto, Julian A.Marwaha, ShrutiMcCauley, JacobMcConkie-Rosell, AllynMcCray, Alexa T.McGee, ElisabethMefford, HeatherMerritt, J. LawrenceMight, MatthewMirzaa, GhaydaMorava, EvaMoretti, Paolo M.Nakano-Okuno, MarikoNelson, Stan F.Newman, John H.Nicholas, Sarah K.Nickerson, DeborahNieves-Rodriguez, ShirleyNovacic, DonnaOglesbee, DevinOrengo, James P.Pace, LauraPak, StephenPallais, J. CarlPalmer, Christina GS.Papp, Jeanette C.Parker, Neil H.Phillips, John A., IIIPosey, Jennifer E.Potocki, LorrainePusey, Barbara N.Quinlan, AaronRaskind, WendyRaja, Archana N.Rao, Deepak A.Raper, AnnaRenteria, GeneceeReuter, Chloe M.Rives, LynetteRobertson, Amy K.Rodan, Lance H.Rosenfeld, Jill A.Rosenwasser, NatalieRossignol, FrancisRuzhnikov, MauraSacco, RalphSampson, Jacinda B.Saporta, MarioSchaechter, JudySchedl, TimothySchoch, KellyScott, C. RonScott, Daryl A.Shashi, VandanaShin, JimannSilverman, Edwin K.Sinsheimer, Janet S.Sisco, KathySmith, Edward C.Smith, Kevin S.Solem, EmilyKrezel, Lilianna SolnicaSolomon, BenSpillmann, Rebecca C.Stoler, Joan M.Sullivan, Jennifer A.Sullivan, KathleenSun, AngelaSutton, ShirleySweetser, David A.Sybert, VirginiaTabor, Holly K.Tan, Amelia L.M.Tan, Queenie K.- G.Tekin, MustafaTelischi, FredThorson, WillaTifft, Cynthia J.Toro, CamiloTran, Alyssa A.Tucker, Brianna M.Urv, Tiina K.Vanderver, AdelineVelinder, MattViskochil, DaveVogel, Tiphanie P.Wahl, Colleen E.Walker, MelissaWallace, StephanieWalley, Nicole M.Wambach, JenniferWan, JijunWang, Lee-kaiWangler, Michael F.Ward, Patricia A.Wegner, DanielWeisz-Hubshman, MonikaWener, MarkWenger, TaraPerry, Katherine WesselingWesterfield, MonteWheeler, Matthew T.Whitlock, JordanWolfe, Lynne A.Worley, KimXiao, ChangruiYamamoto, ShinyaYang, JohnZastrow, Diane B.Zhang, ZheZhao, ChunliZuchner, StephanTepe, BurakMacke, Erica L.Niceta, MarcelloWeisz Hubshman, MonikaKanca, OguzSchultz-Rogers, LauraZarate, Yuri A.Schaefer, G. BradleyGranadillo De Luque, Jorge LuisWegner, Daniel J.Cogne, BenjaminGilbert-Dussardier, BrigitteLe Guillou, XavierWagner, Eric J.Pais, Lynn S.Neil, Jennifer E.Mochida, Ganeshwaran H.Walsh, Christopher A.Magal, NuritDrasinover, ValerieShohat, MordechaiSchwab, TanyaSchmitz, ChrisClark, KarlFine, AnthonyLanpher, BrendanGavrilova, RalitzaBlanc, PierreBurglen, LydieAfenjar, AlexandraSteel, DoraKurian, Manju A.Prabhakar, PrabGößwein, SophieDi Donato, NataliyaBertini, Enrico S.Tartaglia, MarcoKlee, Eric W.
In The American Journal of Human Genetics 4 May 2023 110(5):774-789
Academic Journal
Beaumont, Robin NFlatley, ChristopherVaudel, MarcWu, XiaopingChen, JingMoen, Gunn-HelenSkotte, LineHelgeland, ØyvindSolé-Navais, PolBanasik, KarinaAlbiñana, ClaraRonkainen, JustiinaFadista, JoãoStinson, Sara ElizabethTrajanoska, KaterinaWang, Carol AWestergaard, DavidSrinivasan, SundararajanSánchez-Soriano, CarlosBilbao, Jose RamonAllard, CatherineGroleau, MarikaKuulasmaa, TeemuLeirer, Daniel JWhite, FrédériqueJacques, Pierre-ÉtienneCheng, HaoxiangHao, KeAndreassen, Ole AÅsvold, Bjørn OlavAtalay, MustafaBhatta, LaxmiBouchard, LuigiBrumpton, Ben MichaelBrunak, SørenBybjerg-Grauholm, JonasEbbing, CathrineElliott, PaulEngelbrechtsen, LineErikstrup, ChristianEstarlich, MarisaFranks, StephenGaillard, RomyGeller, FrankGrove, JakobHougaard, David MKajantie, EeroMorgen, Camilla SNohr, Ellen ANyegaard, MettePalmer, Colin N APedersen, Ole BirgerRivadeneira, FernandoSebert, SylvainShields, Beverley MStoltenberg, CamillaSurakka, IdaThørner, Lise WegnerUllum, HenrikVaarasmaki, MarjaVilhjalmsson, Bjarni JWiller, Cristen JLakka, Timo AGybel-Brask, DorteBustamante, MarionaHansen, TorbenPearson, Ewan RReynolds, Rebecca MOstrowski, Sisse RPennell, Craig EJaddoe, Vincent W VFelix, Janine FHattersley, Andrew TMelbye, MadsLawlor, Deborah AHveem, KristianWerge, ThomasNielsen, Henriette SvarreMagnus, PerEvans, David MJacobsson, Bo, 1960; Järvelin, Marjo-RiittaZhang, GeHivert, Marie-FranceJohansson, StefanFreathy, Rachel MFeenstra, BjarkeNjølstad, Pål R
Nature genetics. 55(11):1807-19
Academic Journal
Michigan Historical Review. 45(1):127-128
Academic Journal
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COMMUNICATIONS BIOLOGY. 7(1)
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[검색어] Wegner, Daniel J.
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