학술논문


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'학술논문' 에서 검색결과 763건 | 목록 1~20
Academic Journal
Borras, SilviaClark, CarolineDean, JohnMiedzybrodzka, ZosiaRoss, AlisonTennant, StephenDabir, TabibDonnelly, DeirdreHumphreys, MervynMagee, AlexMcConnell, VivienneMcKee, ShaneMcNerlan, SusanMorrison, Patrick J.Rea, GillianStewart, FionaCole, TrevorCooper, NicolaCooper-Charles, LisaCox, HelenIslam, LilyJarvis, JoannaKeelagher, RebeccaLim, DerekMcMullan, DominicMorton, JennyNaik, SwatiO’Driscoll, MaryOng, Kai-RenOsio, DeborahRagge, NicolaTurton, SarahVogt, JulieWilliams, DeniseBodek, SimonDonaldson, AlanHills, AlisonLow, KarenNewbury-Ecob, RuthNorman, Andrew M.Roberts, EileenScurr, IngridSmithson, SarahTooley, MadeleineAbbs, SteveArmstrong, RuthDunn, CarolynHolden, SimonPark, Soo-MiPaterson, JoanRaymond, LucyReid, EvanSandford, RichardSimonic, IngridTischkowitz, MarcWoods, GeoffBradley, LisaComerford, JoanneGreen, AndrewLynch, SallyMcQuaid, ShirleyMullaney, BrendanBerg, JonathanGoudie, DavidMavrak, EleniMcLean, JoanneMcWilliam, CatherineReavey, EleanorAzam, TaraCleary, ElaineJackson, AndrewLam, WayneLampe, AnneMoore, DavidPorteous, MaryBaple, EmmaBaptista, JúliaBrewer, CaroleCastle, BruceKivuva, EmmaOwens, MartinaRankin, JuliaShaw-Smith, CharlesTurner, ClaireTurnpenny, PeterTysoe, CarolynBradley, ThereseDavidson, RosemarieGardiner, CarolJoss, ShelaghKinning, EstherLongman, CherylMcGowan, RuthMurday, VictoriaPilz, DanielaTobias, EdwardWhiteford, MargoWilliams, NicolaBarnicoat, AngelaClement, EmmaFaravelli, FrancescaHurst, JaneJenkins, LucyJones, WendyAjith Kumar, V.K.Lees, MelissaLoughlin, SamMale, AlisonMorrogh, DeborahRosser, ElisabethScott, RichardWilson, LouiseBeleza, AnaDeshpande, CharuFlinter, FrancesHolder, MurielIrving, MelitaIzatt, LouiseJosifova, DraganaMohammed, ShehlaMolenda, AnetaRobert, LeemaRoworth, WendyRuddy, DeborahRyten, MinaYau, ShuBennett, ChristopherBlyth, MoiraCampbell, JenniferCoates, AndreaDobbie, AngusHewitt, SarahHobson, EmmaJackson, EilidhJewell, RosalynKraus, AlisonPrescott, KatrinaSheridan, EamonnThomson, JennyBradshaw, KirstyDixit, AbhijitEason, JacquelineHaines, RebeccaHarrison, RachelMutch, StaceySarkar, AjoySearle, ClaireShannon, NoraSharif, AbidSuri, MohnishVasudevan, PradeepCanham, NatalieEllis, IanGreenhalgh, LynnHoward, EmmaStinton, VictoriaSwale, AndrewWeber, AstridBanka, SiddharthBreen, CatherineBriggs, TracyBurkitt-Wright, EmmaChandler, KateClayton-Smith, JillDonnai, DianDouzgou, SofiaGaunt, LorraineJones, ElizabethKerr, BronwynLangley, ClaireMetcalfe, KaySmith, AudreyWright, RonnieBourn, DavidBurn, JohnFisher, RichardHellens, SteveHenderson, AlexMontgomery, TaraSplitt, MirandaStraub, VolkerWright, MichaelZwolinski, SimonAllen, ZoeBernhard, BirgittaBrady, AngelaBrooks, ClaireBusby, LouiseClowes, VirginiaGhali, NeetiHolder, SusanIbitoye, RitaWakeling, EmmaBlair, EdwardCarmichael, JennyCilliers, DeirdreClasper, SusanGibbons, RichardKini, UshaLester, TracyNemeth, AndreaPoulton, JoannaPrice, SueShears, DebbieStewart, HelenWilkie, AndrewAlbaba, ShadiBaker, DuncanBalasubramanian, MeenaJohnson, DianaParker, MichaelQuarrell, OliverStewart, AlisonWilloughby, JoshCrosby, CharleneElmslie, FrancesHomfray, TessaJin, HuilinLahiri, NayanaMansour, SaharMarks, KarenMcEntagart, MerielSaggar, AnandTatton-Brown, KateButler, RachelClarke, AngusCorrin, SianFry, AndrewKamath, ArveenMcCann, EmmaMugalaasi, HoodPottinger, CarolineProcter, AnnieSampson, JulianSansbury, FrancisVarghese, VinodBaralle, DianaCallaway, AlisonCassidy, Emma J.Daniels, StaceyDouglas, AndrewFoulds, NicolaHunt, DavidKharbanda, MiraLachlan, KatherineMercer, CatherineSide, LucyTemple, I. KarenWellesley, DianaAmbrose, J.C.Arumugam, P.Baple, E.L.Bleda, M.Boardman-Pretty, F.Boissiere, J.M.Boustred, C.R.Caulfield, M.J.Chan, G.C.Craig, C.E.H.Daugherty, L.C.de Burca, A.Devereau, A.Elgar, G.Foulger, R.E.Fowler, T.FurióTarí, P.Hackett, J.M.Halai, D.Hamblin, A.Henderson, S.Holman, J.E.Hubbard, T.J.P.Ibáñez, K.Jackson, R.Jones, L.J.Kasperaviciute, D.Kayikci, M.Lahnstein, L.Lawson, K.Leigh, S.E.A.Leong, I.U.S.Lopez, F.J.MaleadyCrowe, F.Mason, J.McDonagh, E.M.Moutsianas, L.Mueller, M.Murugaesu, N.Need, A.C.Odhams, C.A.Patch, C.Perez-Gil, D.Polychronopoulos, D.Pullinger, J.Rahim, T.Rendon, A.Riesgo-Ferreiro, P.Rogers, T.Ryten, M.Savage, K.Sawant, K.Scott, R.H.Siddiq, A.Sieghart, A.Smedley, D.Smith, K.R.Sosinsky, A.Spooner, W.Stevens, H.E.Stuckey, A.Sultana, R.Thomas, E.R.A.Thompson, S.R.Tucci, A.Walsh, E.Watters, S.A.Welland, M.J.Williams, E.Witkowska, K.Acosta, Maria T.Adam, MargaretAdams, David R.Agrawal, Pankaj B.Alejandro, Mercedes E.Alvey, JustinAmendola, LauraAndrews, AshleyAshley, Euan A.Azamian, Mahshid S.Bacino, Carlos A.Bademci, GuneyBaker, EvaBalasubramanyam, AshokBaldridge, DustinBale, JimBamshad, MichaelBarbouth, DeborahBayrak-Toydemir, PinarBeck, AnitaBeggs, Alan H.Behrens, EdwardBejerano, GillBennet, JimmyBerg-Rood, BeverlyBernstein, Jonathan A.Berry, Gerard T.Bican, AnnaBivona, StephanieBlue, ElizabethBohnsack, JohnBonnenmann, CarstenBonner, DevonBotto, LorenzoBoyd, BrennaBriere, Lauren C.Brokamp, EllyBrown, GabrielleBurke, Elizabeth A.Burrage, Lindsay C.Butte, Manish J.Byers, PeterByrd, William E.Carey, JohnCarrasquillo, OlveenPeter 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.Craigen, William J.Crouse, Andrew B.Cunningham, MichaelD'Souza, PrecillaDai, HongzhengDasari, SurendraDavids, MariskaDayal, Jyoti G.Deardorff, MatthewDell'Angelica, Esteban C.Dhar, Shweta U.Dipple, KatrinaDoherty, DanielDorrani, NaghmehDouine, Emilie D.Draper, David D.Duncan, LauraEarl, DawnEckstein, David J.Emrick, Lisa T.Eng, Christine M.Esteves, CeciliaEstwick, TyraFalk, MarniFernandez, LilianaFerreira, CarlosFieg, Elizabeth L.Findley, Laurie C.Fisher, Paul G.Fogel, Brent L.Forghani, IrmanFresard, LaureGahl, William A.Glass, IanGodfrey, Rena A.Golden-Grant, KatieGoldman, Alica M.Goldstein, David B.Grajewski, AlanaGroden, Catherine A.Gropman, Andrea L.Gutierrez, IrmaHahn, SihounHamid, RizwanHanchard, Neil A.Hassey, KellyHayes, NicholeHigh, FrancesHing, AnneHisama, Fuki M.Holm, Ingrid A.Hom, JasonHorike-Pyne, MarthaHuang, AldenHuang, YongIsasi, RosarioJamal, FarihaJarvik, Gail P.Jarvik, JeffreyJayadev, SumanJohnston, Jean M.Karaviti, LefkotheaKelley, Emily G.Kennedy, JenniferKiley, DanaKohane, Isaac S.Kohler, Jennefer N.Krakow, DeborahKrasnewich, Donna M.Kravets, ElijahKorrick, SusanKoziura, MaryKrier, Joel B.Lalani, Seema R.Lam, ByronLam, ChristinaLanpher, Brendan C.Lanza, Ian R.Lau, C. ChristopherLeBlanc, KimberlyLee, Brendan H.Lee, HaneLevitt, RoyLewis, Richard A.Lincoln, Sharyn A.Liu, PengfeiLiu, Xue ZhongLongo, NicolaLoo, Sandra K.Loscalzo, JosephMaas, Richard L.Macnamara, Ellen F.MacRae, Calum A.Maduro, Valerie V.Majcherska, Marta M.Mak, BryanMalicdan, May Christine V.Mamounas, Laura A.Manolio, Teri A.Mao, RongMaravilla, KennethMarkello, Thomas C.Marom, RonitMarth, GaborMartin, Beth A.Martin, Martin G.Martínez-Agosto, Julian A.Marwaha, ShrutiMcCauley, JacobMcCormack, Colleen E.McCray, Alexa T.McGee, ElisabethMefford, HeatherMerritt, J. LawrenceMight, MatthewMirzaa, GhaydaMorava, EvaMoretti, Paolo M.Morimoto, MarieMulvihill, John J.Murdock, David R.Nakano-Okuno, MarikoNath, AviNelson, Stan F.Newman, John H.Nicholas, Sarah K.Nickerson, DeborahNieves-Rodriguez, ShirleyNovacic, DonnaOglesbee, DevinOrengo, James P.Pace, LauraPak, StephenPallais, J. CarlPapp, Jeanette C.Parker, Neil H.Phillips, John A.Posey, Jennifer E.Potocki, LorrainePusey, Barbara N.Quinlan, AaronRaskind, WendyRaja, Archana N.Rao, Deepak A.Renteria, GeneceeReuter, Chloe M.Rives, LynetteRobertson, Amy K.Rodan, Lance H.Rosenfeld, Jill A.Rosenwasser, NatalieRuzhnikov, MauraSacco, RalphSampson, Jacinda B.Samson, Susan L.Saporta, MarioScott, C. RonSchaechter, JudySchedl, TimothyScott, Daryl A.Sharma, PrashantShin, JimannSigner, RebeccaSillari, Catherine H.Silverman, Edwin K.Sinsheimer, Janet S.Sisco, KathySmith, Edward C.Smith, Kevin S.Solem, EmilySolnica-Krezel, LiliannaStoler, Joan M.Stong, NicholasSullivan, Jennifer A.Sun, AngelaSutton, ShirleySweetser, David A.Sybert, VirginiaTabor, Holly K.Tamburro, Cecelia P.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.Wallace, StephanieWalley, Nicole M.Walsh, Chris A.Walker, MelissaWambach, JenniferWan, JijunWang, Lee-KaiWangler, Michael F.Ward, Patricia A.Wegner, DanielWener, MarkWenger, TaraPerry, Katherine WesselingWesterfield, MonteWheeler, Matthew T.Whitlock, JordanWolfe, Lynne A.Woods, Jeremy D.Yamamoto, ShinyaYang, JohnYu, GuoyunZastrow, Diane B.Zhao, ChunliZuchner, StephanJeffries, LaurenMis, Emily K.McWalter, KirstyDonkervoort, SandraBrodsky, Nina N.Carpier, Jean-MarieJi, WeizhenIonita, CristianRoy, BhaskarMorrow, Jon S.Darbinyan, ArmineIyer, KrishnaAul, Ritu B.Chao, Katherine R.Cobbold, LauraCohen, StaceyCustodio, Helena M.Drummond-Borg, MargaretFinanger, ErikaHainline, Bryan E.Helbig, IngoHewson, StacyHu, YingJackson, AdamKonstantino, MonicaLeach, Meganne E.McCormick, DavidNelson, StanleyNguyen, JoanneNugent, KimberlyOrtega, LucyGoodkin, Howard P.Roeder, ElizabethRoy, SaniSapp, KatieSaade, DimahSisodiya, Sanjay M.Stals, KarenTowner, ShelleyWilson, WilliamKhokha, Mustafa K.Bönnemann, Carsten G.Lucas, Carrie L.Lakhani, Saquib A.
In Genetics in Medicine February 2024 26(2)
Academic Journal
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Genetics in Medicine, 24, 10, pp. 2051-2064
Genetics in medicine : official journal of the American College of Medical Genetics
United States
Genetics in Medicine
de Boer, E, Ockeloen, C W, Kampen, R A, Hampstead, J E, Dingemans, A J M, Rots, D, Lütje, L, Ashraf, T, Baker, R, Barat-Houari, M, Angle, B, Chatron, N, Denommé-Pichon, A S, Devinsky, O, Dubourg, C, Elmslie, F, Elloumi, H Z, Faivre, L, Fitzgerald-Butt, S, Geneviève, D, Goos, J A C, Helm, B M, Kini, U, Lasa-Aranzasti, A, Lesca, G, Lynch, S A, Mathijssen, I M J, McGowan, R, Monaghan, K G, Odent, S, Pfundt, R, Putoux, A, van Reeuwijk, J, Santen, G W E, Sasaki, E, Sorlin, A, van der Spek, P J, Stegmann, A P A, Swagemakers, S M A, Valenzuela, I, Viora-Dupont, E, Vitobello, A, Ware, S M, Wéber, M, Gilissen, C, Low, K J, Fisher, S E, Vissers, L E L M, Wong, M M K & Kleefstra, T 2022, 'Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein', Genetics in Medicine, vol. 24, no. 10, pp. 2051-2064. https://doi.org/10.1016/j.gim.2022.06.007
Genet Med.
Academic Journal
Chopra, MayaMcEntagart, MerielClayton-Smith, JillPlatzer, KonradShukla, AnjuGirisha, Katta MKaur, AnupriyaKaur, ParneetPfundt, RolphVeenstra-Knol, HermineMancini, Grazia M SCappuccio, GerardaBrunetti-Pierri, NicolaKortüm, FannyHempel, MajaDenecke, JonasLehman, AnnaKleefstra, TjitskeStuurman, Kyra EWilke, MartinaThompson, Michelle LBebin, E MartinaBijlsma, Emilia KHoffer, Mariette J VPeeters-Scholte, CachaSlavotinek, AnneWeiss, William AYip, TiffanyHodoglugil, UgurWhittle, AmydiMonda, JanetteNeira, JuanitaYang, SandraKirby, AmeliaPinz, HaileyLechner, RosanSleutels, FrankHelbig, IngoMcKeown, SarahHelbig, KatherineWillaert, RebeccaJuusola, JaneSemotok, JenniferHadonou, MedardShort, JohnYachelevich, NaomiLala, SajelFernández-Jaen, AlbertoPelayo, Janvier PortaKlöckner, ChiaraKamphausen, Susanne BAbou Jamra, RamiArelin, MariaInnes, A MicheilNiskakoski, AnniAmin, SamWilliams, MaggieEvans, JulieSmithson, SarahSmedley, Damiande Burca, AnnaKini, UshaDelatycki, Martin BGallacher, LyndonYeung, AlisonPais, LynnField, MichaelMartin, EllenoreCharles, PerrineCourtin, ThomasKeren, BorisIascone, MariaCereda, AnnaPoke, GemmaAbadie, VéroniqueChalouhi, ChristelParthasarathy, PadminiHalliday, Benjamin JRobertson, Stephen PLyonnet, StanislasAmiel, JeanneGordon, Christopher T
American Journal of Human Genetics, 108, 6, pp. 1138-1150
Academic Journal
Pagnamenta, Alistair T.Camps, CarmeGiacopuzzi, EdoardoTaylor, John M.Hashim, MonaCalpena, EduardoKaisaki, Pamela J.Hashimoto, AkikoYu, JingSanders, EdwardSchwessinger, RonHughes, Jim R.Lunter, GertonDreau, HeleneFerla, MatteoLange, LukasKesim, YesimRagoussis, VassilisVavoulis, Dimitrios V.Allroggen, HolgerAnsorge, OlafBabbs, ChristianBanka, SiddharthBaños-Piñero, BenitoBeeson, DavidBen-Ami, TalBennett, David L.Bento, CelesteBlair, EdwardBrasch-Andersen, CharlotteBull, Katherine R.Cario, HolgerCilliers, DeirdreConti, ValerioDavies, E. GrahamDhalla, FatimaDacal, Beatriz DiezDong, YinDunford, James E.Guerrini, RenzoHarris, Adrian L.Hartley, JaneHollander, GeorgJavaid, KassimKane, MaureenKelly, DeirdreKelly, DominicKnight, Samantha J. L.Kreins, Alexandra Y.Kvikstad, Erika M.Langman, Craig B.Lester, TracyLines, Kate E.Lord, Simon R.Lu, XinMansour, SaharManzur, AdnanMaroofian, RezaMarsden, BrianMason, JoanneMcGowan, Simon J.Mei, DavideMlcochova, HanaMurakami, YoshikoNémeth, Andrea H.Okoli, StevenOrmondroyd, ElizabethOusager, Lilian BommePalace, JacquelinePatel, Smita Y.Pentony, Melissa M.Pugh, ChrisRad, AboulfazlRamesh, ArchanaRiva, Simone G.Roberts, IreneRoy, NoémiSalminen, OutiSchilling, Kyleen D.Scott, CarolineSen, ArjuneSmith, ConradStevenson, MarkThakker, Rajesh V.Twigg, Stephen R. F.Uhlig, Holm H.van Wijk, RichardVona, BarbaraWall, StevenWang, JingWatkins, HughZak, JaroslavSchuh, Anna H.Kini, UshaWilkie, Andrew O. M.Popitsch, NikoTaylor, Jenny C.
Genome Med
Genome Medicine, Vol 15, Iss 1, Pp 1-25 (2023)
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Academic Journal
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