학술논문


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'학술논문' 에서 검색결과 889건 | 목록 1~20
Academic Journal
Sébastien KüryJanelle E. StantonGeeske M. van WoerdenAmélie Bosc-RosatiTzung-Chien HsiehLise BrayMarielle OloudéCory RosenfeltMarie Pier Scott-BoyerVictoria MostTianyun WangJonas J. PapendorfCharlotte de KoninkWallid DebVirginie VignardMaja Studencka-TurskiThomas BesnardAnna M. HajdukowiczFranziska G. ThielSophie WolfgrammLaëtitia FlorenceauSilvestre CuinatSylvain MarsacYann VerrèsAudrey DangoumauLéa PoirierIngrid M. WentzensenAnnabelle TuttleCara ForsterJohanna StriesowRichard GolnikDamara OrtizLaura JenkinsJill A. RosenfeldAlban ZieglerClara HoudayerDominique BonneauErin TortiAmber BegtrupKristin G. MonaghanSureni V. MullegamaCatharina M. L. Nienke Volker-TouwKoen L. I. van GassenRenske OegemaMirjam S. de PagterKatharina SteindlAnita RauchIvan IvanovskiKimberly McDonaldEmily BootheAndrew DauberJanice BakerNoelle Andrea V. FabieRaphael A. BernierTychele N. TurnerSiddharth SrivastavaKira A. DiesLindsay C. SwansonCarrie CostinAlali AbdulrazakRebekah K. JoblingJohn PappasRachel RabinDmitriy NiyazovAnne Chun-Hui TsaiKaren KovakDavid B. BeckMay Christine V. MalicdanDavid R. AdamsLynne WolfeRebecca D. GanetzkyColleen C. MurareskuDavit BabikyanZdeněk SedláčekMiroslava HančárováAndrew T. TimberlakeHind Al SaifBerkley NestlerKayla KingMJ HajianpourGregory CostainD’Arcy PrendergastChumei LiDavid GenevièveAntonio VitobelloArthur SorlinChristophe PhilippeTamar HarelOri TokerAtaf SabirDerek LimMark J. HamiltonLisa J. BrysonElaine ClearySacha WeberTrevor L. HoffmanAnna M. Cueto-GonzálezEduardo F. TizzanoDavid Gómez-AndrésMarta Codina-SolàAthina VerveriEfterpi PavlidouAlexandros LambropoulosKyriakos GarganisMarlène RioJonathan LevySarah J. LangasAnne M. McRaeMathieu K. LessardMaria Daniela D’AgostinoIsabelle De BieMeret WeglerRami Abou JamraSusanne B. KamphausenViktoria BotheLorraine PotockiEric OlingerYves SznajerElsa WiameMichelle L. ThompsonMolly C. SchroederCatherine GoochRaphael A. SmithArti PandyaLarissa M. BuschUwe VölkerElke HammerKristian WendeBenjamin CognéBertrand IsidorJens MeilerClémentine RipollStéphanie BigouFrédéric LaumonnierPeter W. HildebrandEvan E. EichlerKirsty McWalterPeter M. KrawitzFlorence Roux-DalvaiYpe ElgersmaJulien MarcouxMarie-Pierre BousquetArnaud DroitJeremie PoschmannAndreas M. GrabruckerFrancois V. BolducStéphane BézieauFrédéric EbsteinElke Krüger
Nature Communications, Vol 16, Iss 1, Pp 1-21 (2025)
Academic Journal
Avinash V. DharmadhikariMaria Alba AbadSheraz KhanReza MaroofianTristan T. SandsFarid UllahItaru SamejimaYanwen ShenMartin A. WearKiara E. MooreElena KondakovaNatalia MitinaTheres SchaubGrace K. LeeChristine H. UmandapSara M. BergerAlejandro D. IglesiasBernt PoppRami Abou JamraHeinz GabrielStefan RentasAlyssa L. RippertChristopher GrayKosuke IzumiLaura K. ConlinDaniel C. KoboldtTheresa Mihalic MosherScott E. HickeyDara V. F. AlbertHaley NorwoodAmy Feldman LewandaHongzheng DaiPengfei LiuTadahiro MitaniDana MarafiHatice Koçak EkerDavut PehlivanJennifer E. PoseyNatalie C. LippaNatalie VenaErin L. HeinzenDavid B. GoldsteinCyril MignotJean-Madeleine de Sainte AgatheNouriya Abbas Al-SannaaMina ZamaniSaeid SadeghianReza AzizimalamiriTahere SeifiaMaha S. ZakiGhada M. H. Abdel-SalamMohamed S. Abdel-HamidLama AlabdiFowzan Sami AlkurayaHeba DawoudAya LoftyPeter BauerGiovanni ZifarelliErum AfzalFaisal ZafarStephanie EfthymiouDaniel GossettMeghan C. TowneRaey YeneabatBelen Perez-DuenasAna Cazurro-GutierrezEdgard VerduraVeronica Cantarin-ExtremeraAna do Vale MarquesAleksandra HelwakDavid TollerveySandeep N. WontakalVimla S. AggarwalJill A. RosenfeldVictor TarabykinShinya OhtaJames R. LupskiHenry HouldenWilliam C. EarnshawErica E. DavisA. Arockia JeyaprakashJun Liao
Nature Communications, Vol 16, Iss 1, Pp 1-24 (2025)
Academic Journal
Monatsschrift Kinderheilkunde: Zeitschrift für Kinder- und Jugendmedizin. 173(3):234-241
Conference
2014 IEEE PES Asia-Pacific Power and Energy Engineering Conference (APPEEC) Power and Energy Engineering Conference (APPEEC), 2014 IEEE PES Asia-Pacific. :1-5 Dec, 2014
Conference
2013 IEEE International Conference of IEEE Region 10 (TENCON 2013) TENCON 2013 - 2013 IEEE Region 10 Conference (31194). :1-5 Oct, 2013
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
Eur J Hum Genet
Low, K J, Ansari, M, Abou Jamra, R, Clarke, A, El Chehadeh, S, FitzPatrick, D R, Greenslade, M, Henderson, A, Hurst, J, Keller, K, Kuentz, P, Prescott, T, Roessler, F, Selmer, K K, Schneider, M C, Stewart, F, Tatton-Brown, K, Thevenon, J, Vigeland, M D, Vogt, J, Willems, M, Zonana, J, Study, D D D & Smithson, S F 2017, ' PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features ', European Journal of Human Genetics, vol. 25, no. 5, pp. 552-559 . https://doi.org/10.1038/ejhg.2017.27
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[검색어] Jamra, R.
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