학술논문


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'학술논문' 에서 검색결과 8건 | 목록 1~20
Academic Journal
Samantha M. BaxterJennifer E. PoseyNicole J. LakeNara SobreiraJessica X. ChongSteven BuyskeElizabeth E. BlueLisa H. ChadwickZeynep H. Coban-AkdemirKimberly F. DohenyColleen P. DavisMonkol LekChristopher WellingtonShalini N. JhangianiMark GersteinRichard A. GibbsRichard P. LiftonDaniel G. MacArthurTara C. MatiseJames R. LupskiDavid ValleMichael J. BamshadAda HamoshShrikant ManeDeborah A. NickersonMarcia AdamsFrançois AguetGulsen AkayPeter AndersonCorina AntonescuHarindra M. ArachchiMehmed M. AtikChristina A. Austin-TseLarry BabbTamara J. BacusVahid BahrambeigiSuganthi BalasubramanianYavuz BayramArthur L. BeaudetChristine R. BeckJohn W. BelmontJennifer E. BelowKaya BilguvarCorinne D. BoehmEric BoerwinklePhilip M. BooneSara J. BowneHarrison BrandKati J. BuckinghamAlicia B. ByrneDaniel CalameIan M. CampbellXiaolong CaoClaudia CarvalhoVaruna ChanderJaime ChangKatherine R. ChaoIvan K. ChinnDeclan ClarkeRyan L. CollinsBeryl CummingsZain DardasMoez DawoodKayla DelanoStephanie P. DiTroiaHarshavardhan DoddapaneniHaowei DuRenqian DuRuizhi DuanMohammad EldomeryChristine M. EngEleina EnglandEmily EvangelistaSelin EverettJawid FatihAdam FelsenfeldLaurent C. FrancioliChristian D. FrazarJack FuEmmanuel GamarraTomasz GambinWeiniu GanMira GandhiVijay S. GaneshKiran V. GarimellaLaura D. GauthierDanielle GirouxClaudia Gonzaga-JaureguiJulia K. GoodrichWilliam W. GordonSean GriffithChristopher M. GrochowskiShen GuSanna GudmundssonStacey J. HallAdam HansenTamar HarelArif O. HarmanciIsabella HermanKurt HetrickHadia HijaziMartha Horike-PyneElvin HsuJianhong HuYongqing HuangJameson R. HurlessSteve JahlGail P. JarvikYunyun JiangEric JohansonAngad JollyEnder KaracaMichael KhayatJames KnightJ. Thomas KolarSushant KumarSeema LalaniKristen M. LaricchiaKathryn E. LarkinSuzanne M. LealGabrielle LemireRichard A. LewisHe LiHua LingRachel B. LipsonPengfei LiuAlysia Kern LovgrenFrancesc López-GiráldezMelissa P. MacMillanBrian E. MangilogStacy ManoDana MarafiBeth MarosyJamie L. MarshallRenan MartinColby T. MarvinMichelle MawhinneySean McGeeDaniel J. McGoldrickMichelle MehaffeyBetselote MekonnenXiaolu MengTadahiro MitaniChristina Y. MiyakeDavid MohrShaine MorrisThomas E. MullenDavid R. MurdockMullai MuruganDonna M. MuznyBen MyersJuanita NeiraKevin K. NguyenPatrick M. NielsenNatalie NudelmanEmily O’HeirMelanie C. O’LearyChrissie OngacoJordan OrangeIkeoluwa A. Osei-OwusuIngrid S. PaineLynn S. PaisJustin PaschallKarynne PattersonDavut PehlivanBenjamin PelleSamantha PenneyJorge Perez de Acha ChavezEmma Pierce-HoffmanCecilia M. PoliJaya PunethaAparna RadhakrishnanMatthew A. RichardsonEliete RodriguesGwendolin T. RooteJill A. RosenfeldErica L. RykeAniko SaboAlice SanchezIsabelle SchrauwenDaryl A. ScottFritz SedlazeckJillian SerranoChad A. ShawTameka ShelfordKathryn M. ShivelyMoriel Singer-BerkJoshua D. SmithHana SnowGrace SnyderMatthew SolomonsonRachel G. SonXiaofei SongPawel StankiewiczTaylorlyn StephanV. Reid SuttonAbigail SvedenDiana Cornejo SánchezMonica TackettMichael TalkowskiMachiko S. ThrelkeldGrace TiaoMiriam S. UdlerLaura VailZaheer ValivullahElise ValkanasGrace E. VanNoyQingbo S. WangGao WangLu WangMichael F. WanglerNicholas A. WattsBen WeisburdJeffrey M. WeissMarsha M. WheelerJanson J. WhiteClara E. WilliamsonMichael W. WilsonWojciech WiszniewskiMarjorie A. WithersDane WitmerLauren WitzgallElizabeth WohlerMonica H. WojcikIsaac WongJordan C. WoodNan WuJinchuan XingYaping YangQian YiBo YuanJordan E. ZeigerChaofan ZhangPeng ZhangYan ZhangXiaohong ZhangYeting ZhangShifa ZhangHuda ZoghbiIgna van den VeyverHeidi L. RehmAnne O’Donnell-Luria
Genetics in Medicine. 24:784-797
Academic Journal
Anne H. O’Donnell-LuriaLynn S. PaisVíctor FaundesJordan C. WoodAbigail SvedenVictor LuriaRami Abou JamraAndrea AccogliKimberly AmburgeyBritt Marie AnderlidSilvia Azzarello-BurriAlice A. BasingerClaudia BianchiniLynne M. BirdRebecca BuchertWilfrid CarreSophia CeulemansPerrine CharlesHelen CoxLisa CullitonAurora CurròFlorence DemurgerJames J. DowlingBenedicte Duban-BeduChristèle DubourgSaga Elise EisetLuis F. EscobarAlessandra FerrariniTobias B. HaackMona HashimSolveig HeideKatherine L. HelbigIngo HelbigRaul HerediaDelphine HéronBertrand IsidorAmy R. JonassonPascal JosetBoris KerenFernando KokHester Y. KroesAlinoë LavillaureixXin LuSaskia M. MaasGustavo H.B. MaegawaCarlo L.M. MarcelisPaul R. MarkMarcelo R. MasruhaHeather M. McLaughlinKirsty McWalterEsther U. MelchingerSaadet Mercimek-AndrewsCaroline NavaManuela PendziwiatRichard PersonGian Paolo RamelliLuiza L.P. RamosAnita RauchCaitlin ReaveyAlessandra RenieriAngelika RießAmarilis Sanchez-ValleShifteh SattarCarol SaundersNiklas SchwarzThomas SmolMyriam SrourKatharina SteindlSteffen SyrbeJenny C. TaylorAida TelegrafiIsabelle ThiffaultDoris A. TraunerHelio van der LindenSilvana van KoningsbruggenLaurent VillardIda VogelJulie VogtYvonne G. WeberIngrid M. WentzensenElysa WidjajaJaroslav ZakSamantha BaxterSiddharth BankaLance H. RodanJeremy F. McRaeStephen ClaytonTomas W. FitzgeraldJoanna KaplanisElena PrigmoreDiana RajanAlejandro SifrimStuart AitkenNadia AkawiMohsan AlviKirsty AmbridgeDaniel M. BarrettTanya BayzetinovaPhilip JonesWendy D. JonesDaniel KingNetravathi KrishnappaLaura E. MasonTarjinder SinghAdrian R. TiveyMunaza AhmedUruj AnjumHayley ArcherRuth ArmstrongJana AwadaMeena BalasubramanianDiana BaralleAngela BarnicoatPaul BatstoneDavid BatyChris BennettJonathan BergBirgitta BernhardA. Paul BevanMaria Bitner-GlindziczEdward BlairMoira BlythDavid BohannaLouise BourdonDavid BournLisa BradleyAngela BradySimon BrentCarole BrewerKate BrunstromDavid J. BunyanJohn BurnNatalie CanhamBruce CastleKate ChandlerElena ChatzimichaliDeirdre CilliersAngus ClarkeSusan ClasperJill Clayton-SmithVirginia ClowesAndrea CoatesTrevor ColeIrina ColgiuAmanda CollinsMorag N. CollinsonFiona ConnellNicola CooperLara CresswellGareth CrossYanick CrowMariella D’AlessandroTabib DabirRosemarie DavidsonSally DaviesDylan de VriesJohn DeanCharu DeshpandeGemma DevlinAbhijit DixitAngus DobbieAlan DonaldsonDian DonnaiDeirdre DonnellyCarina DonnellyAngela DouglasSofia DouzgouAlexis DuncanJacqueline EasonSian EllardIan EllisFrances ElmslieKarenza EvansSarah EverestTina FendickRichard FisherFrances FlinterNicola FouldsAndrew FryAlan FryerCarol GardinerLorraine GauntNeeti GhaliRichard GibbonsHarinder GillJudith GoodshipDavid GoudieEmma GrayAndrew GreenPhilip GreeneLynn GreenhalghSusan GribbleRachel HarrisonLucy HarrisonVictoria HarrisonRose HawkinsLiu HeStephen HellensAlex HendersonSarah HewittLucy HildyardEmma HobsonSimon HoldenMuriel HolderSusan HolderGeorgina HollingsworthTessa HomfrayMervyn HumphreysJane HurstBen HuttonStuart IngramMelita IrvingLily IslamAndrew JacksonJoanna JarvisLucy JenkinsDiana JohnsonElizabeth JonesDragana JosifovaShelagh JossBeckie KaembaSandra KazembeRosemary KelsellBronwyn KerrHelen KingstonUsha KiniEsther KinningGail KirbyClaire KirkEmma KivuvaAlison KrausDhavendra KumarV. K. Ajith KumarKatherine LachlanWayne LamAnne LampeCaroline LangmanMelissa LeesDerek LimCheryl LongmanGordon LowtherSally A. LynchAlex MageeEddy MaherAlison MaleSahar MansourKaren MarksKatherine MartinUna MayeEmma McCannVivienne McConnellMeriel McEntagartRuth McGowanKirsten McKayShane McKeeDominic J. McMullanSusan McNerlanCatherine McWilliamSarju MehtaKay MetcalfeAnna MiddletonZosia MiedzybrodzkaEmma MilesShehla MohammedTara MontgomeryDavid MooreSian MorganJenny MortonHood MugalaasiVictoria MurdayHelen MurphySwati NaikAndrea NemethLouise NevittRuth Newbury-EcobAndrew NormanRosie O’SheaCaroline OgilvieKai-Ren OngSoo-Mi ParkMichael J. ParkerChirag PatelJoan PatersonStewart PayneDaniel PerrettJulie PhippsDaniela T. PilzMartin PollardCaroline PottingerJoanna PoultonNorman PrattKatrina PrescottSue PriceAbigail PridhamAnnie ProcterHellen PurnellOliver QuarrellNicola RaggeRaheleh RahbariJosh RandallJulia RankinLucy RaymondDebbie RiceLeema RobertEileen RobertsJonathan RobertsPaul RobertsGillian RobertsAlison RossElisabeth RosserAnand SaggarShalaka SamantJulian SampsonRichard SandfordAjoy SarkarSusann SchweigerRichard ScottIngrid ScurrAnn SelbyAnneke SellerCheryl SequeiraNora ShannonSaba SharifCharles Shaw-SmithEmma ShearingDebbie ShearsEamonn SheridanIngrid SimonicRoldan SingzonZara SkittAudrey SmithKath SmithSarah SmithsonLinda SneddonMiranda SplittMiranda SquiresFiona StewartHelen StewartVolker StraubMohnish SuriVivienne SuttonGanesh Jawahar SwaminathanElizabeth SweeneyKate Tatton-BrownCat TaylorRohan TaylorMark TeinI. Karen TempleJenny ThomsonMarc TischkowitzSusan TomkinsAudrey TorokwaBecky TreacyClaire TurnerPeter TurnpennyCarolyn TysoeAnthony VandersteenVinod VarghesePradeep VasudevanParthiban VijayarangakannanEmma WakelingSarah WallwarkJonathon WatersAstrid WeberDiana WellesleyMargo WhitefordSara WidaaSarah WilcoxEmily WilkinsonDenise WilliamsNicola WilliamsLouise WilsonGeoff WoodsChristopher WraggMichael WrightLaura YatesMichael YauChris NellåkerMichael ParkerHelen V. FirthCaroline F. WrightDavid R. FitzPatrickJeffrey C. BarrettMatthew E. Hurles
American Journal of Human Genetics, 104, 6, pp. 1210-1222
Deciphering Developmental Disorders (DDD) Study 2019, 'Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222. https://doi.org/10.1016/j.ajhg.2019.03.021
Deciphering Developmental Disorders (DDD) Study 2019 'Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy' BioRxiv, Cold Spring Harbor Laboratory Press. https://doi.org/10.1101/566091
O'Donnell-Luria, A H, Pais, L S, Faundes, V, Wood, J C, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K, Anderlid, B M, Azzarello-Burri, S, Basinger, A A, Bianchini, C, Bird, L M, Buchert, R, Carre, W, Ceulemans, S, Charles, P, Cox, H, Culliton, L, Currò, A, Deciphering Developmental Disorders (DDD) Study, Demurger, F, Dowling, J J, Duban-Bedu, B, Dubourg, C, Eiset, S E, Escobar, L F, Ferrarini, A, Haack, T B, Hashim, M, Heide, S, Helbig, K L, Helbig, I, Heredia, R, Héron, D, Isidor, B, Jonasson, A R, Joset, P, Keren, B, Kok, F, Kroes, H, Lavillaureix, A, Lu, X, Maass, S, Maegawa, G H B, Marcelis, C M, Mark, P, Masruha, M, McLaughlin, H, McWalter, K, Melchinger, E, Mercimek-Andrews, S, Nava, C, Pendziwiat, M, Person, R, Ramelli, G P, Ramos, L, Rauch, A, Reavey, C, Renieri, A, Rieß, A, Sanchez-Valle, A, Sattar, S, Saunders, C, Schwarz, N, Smol, T, Srour, M, Steindl, K, Syrbe, S, Taylor, J C, Telegrafi, A, Thiffault, I, Trauner, D, van der Linden Jr., H, van Koningsbruggen, S, Vilard, L, Vogel, I, Vogt, J, Weber, Y G, Wentzensen, I, Widjaja, E, Zak, J, Baxter, S, Banka, S & Rodan, L H 2019, 'Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222. https://doi.org/10.1016/j.ajhg.2019.03.021
Academic Journal
Alicia B. ByrnePeer ArtsThuong T. HaKarin S. KassahnLynn S. PaisAnne O’Donnell-LuriaFrançois AguetHarindra M. ArachchiChristina A. Austin-TseLarry BabbSamantha M. BaxterHarrison BrandJaime ChangKatherine R. ChaoRyan L. CollinsBeryl CummingsKayla DelanoStephanie P. DiTroiaEleina EnglandEmily EvangelistaSelin EverettLaurent C. FrancioliJack FuVijay S. GaneshKiran V. GarimellaLaura D. GauthierJulia K. GoodrichSanna GudmundssonStacey J. HallYongqing HuangSteve JahlKristen M. LaricchiaKathryn E. LarkinMonkol LekGabrielle LemireRachel B. LipsonAlysia Kern LovgrenDaniel G. MacArthurBrian E. MangilogStacy ManoJamie L. MarshallThomas E. MullenKevin K. NguyenEmily O’HeirMelanie C. O’LearyIkeoluwa A. Osei-OwusuJorge Perez de Acha ChavezEmma Pierce-HoffmanHeidi L. RehmJillian SerranoMoriel Singer-BerkHana SnowMatthew SolomonsonRachel G. SonAbigail SvedenMichael TalkowskiGrace TiaoMiriam S. UdlerZaheer ValivullahElise ValkanasGrace E. VanNoyQingbo S. WangNicholas A. WattsBen WeisburdClara E. WilliamsonMichael W. WilsonLauren WitzgallMonica H. WojcikIsaac WongJordan C. WoodShifa ZhangMilena BabicMahalia S. B. FrankJinghua FengPaul WangDavid M. LawrenceLeila EshraghiLuis ArriolaJohn ToubiaHung NguyenDisna AbeysuriyaLesley C. AdesDavid J. AmorSusan ArbuckleMadhura BakshiBligh BerryTiffany BoughtwoodAdam BournazosAlessandra BrayFiona ChanYuen ChanClara ChungJonathan ClarkJackie CollettAlison ColleyFelicity CollinsSandra CooperMark A. CorbettJane E. DahlstromPeter DargavilleJanene DaviesTenielle DavisJarrad DearmanJayanthi DissanayakeJulia DobbinsHelen DoyleAndrew DubowskyMatt EdwardsLisa J. EwansMitali FadiaAndrew FennellKeri FinlayAndrew FrenchKathryn FriendAlison E. GardnerJozef GeczNicole GrafEric A. HaanGeorgina HollingsworthAri E. HortonDenise HowtingMatthew F. HunterGareth JevonBenjamin KamienDebra KennedyT. Yee KhongMichael KrivanekThessa KroesEmma I. KrzesinskiEdward KwanStephanie LauShannon LeBlancJan LiebeltSuzanna Lindsey-TempleChristine K. C. LooJulia LowAmali MallawaarachchiAdmire MatsikaTessa MattiskeJulie McGaughranLesley McGregorNamita MittalAli MoghimiLynette MooreHatice Mutlu AlbayrakJessica NgJillian NichollNicholas PachterJohn PapadimitriouRenae ParkerSarah ParsonsChirag PatelRhonda PawlowskiLuis A. Perez-JuradoJason R. PinnerKaterina PolitisCathryn PoultonTheresa PowerMichael QuinnSulekha RajagopalanMatthew ReganJonathan RodgersSteuart RorkeRani SachdevSuzanne SalleveltSarah A. SandaraduraMaryam ShamassiRoshan ShamonIsabella SherburnJennie SleeAnnalisa SolinasElla SugoElizabeth ThompsonSagarika TripathyAnand VasudevanMelisa VazquezKunal VermaMthulisi VikiMathew WallisDani L. WebberMartin WeberKaren WhaleMeredith WilsonLisa WorganSui YuGeorge McGillivrayJason PinnerFiona McKenzieRebecca MorrowJill LipsettNick MantonJan E. LiebeltAndreas W. SchreiberSarah L. King-SmithTristan S. E. HardyMatilda R. JacksonChristopher P. BarnettHamish S. Scott
Nature Medicine. 30:302-302
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[AR] Jordan C. Wood
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