학술논문


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'학술논문' 에서 검색결과 19건 | 목록 1~20
Academic Journal
Emily BanksVincent FrancisSheng-Jia LinFares KharfallahVladimir FonovMaxime LévesqueChanshuai HanGopinath KulasekaranMarius TuznikArmin BayatiReem Al-KhaterFowzan S. AlkurayaLoukas ArgyriouMeisam BabaeiMelanie BahloBehnoosh BakhshoodehEileen BarrLauren BartikMahmoud BassionyMiriam BertrandDominique BraunRebecca BuchertMauro BudettaMaxime Cadieux-DionDaniel G. CalameHeidi CopeDonna CushingStephanie EfthymiouMarwa Abd ElmaksoudHuda G. El SaidTawfiq FroukhHarinder K. GillJoseph G. GleesonLaura GogollElaine S.-Y. GohVykuntaraju K. GowdaTobias B. HaackMais O. HashemStefan HauserTrevor L. HoffmanJacob S. HogueAkimoto HosokawaHenry HouldenKevin HuangStephanie HuynhEhsan G. KarimianiSilke KaulfußG. Christoph KorenkeAmy KritzerHane LeeJames R. LupskiElysa J. MarcoKirsty McWalterArakel MinassianBerge A. MinassianDavid MurphyJuanita Neira-FresnedaHope NorthrupDenis M. NyagaBarbara Oehl-JaschkowitzMatthew OsmondRichard PersonDavut PehlivanCassidy PetreeLynette G. SadleirCarol SaundersLudger SchoelsVandana ShashiRebecca C. SpillmannVarunvenkat M. SrinivasanParia N. TorbatiTulay TosUndiagnosed Diseases NetworkMaha S. ZakiDihong ZhouChristiane ZweierJean-François TrempeThomas M. DurcanZiv Gan-OrMassimo AvoliCesar AlvesGaurav K. VarshneyReza MaroofianDavid A. RudkoPeter S. McPherson
Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)
Academic Journal
Florian KraftPiere Rodriguez-AliagaWeimin YuanLena FrankenKamil ZajtDimah HasanTing-Ting LeeElisabetta FlexAndreas HentschelA. Micheil InnesBixia ZhengDong Sun Julia SuhCordula KnoppEva LausbergJeremias KrauseXiaomeng ZhangPamela TrapaneRiley CarrollMartin McClatcheyAndrew E. FryLisa WangSebastian GiesselmannHieu HoangDustin BaldridgeGary A. SilvermanFrancesca Clementina RadioEnrico BertiniAndrea CiolfiKatherine A BloodJean-Madeleine de Sainte AgathePerrine CharlesGaber BergantGoran ČuturiloBorut PeterlinKarin DiderichHaley StreffLaurie RobakRenske OegemaEllen van BinsbergenJohn HerrigesCarol J. SaundersAndrea MaierStefan WolkingYvonne WeberHanns LochmüllerStefanie MeyerAlberto AlemanKiran PolavarapuGael NicolasAlice GoldenbergLucie GuyantKathleen PopeKatherine N. HehmeyerKristin G. MonaghanAnnegret QuadeThomas SmolRoseline CaumesSarah DuerinckxChantal DepondtWim Van PaesschenClaudine RieublandClaudia PoloniMichel GuipponiSeverine ArcioniMarije MeuwissenAnna C. JansenJessica RosenblumTobias B. HaackMiriam BertrandLea GerstnerJanine MaggOlaf RiessJörg B. SchulzNorbert WagnerMartin WiesmannJoachim WeisThomas EggermannMatthias BegemannAndreas RoosMartin HäuslerTim SchedlMarco TartagliaJuliane BremerStephen C. PakJudith FrydmanMiriam ElbrachtIngo Kurth
Science
Academic Journal
Eva NigglArjan BoumanLauren C. BriereRemco M. HoogenboezemIlse WallaardJoohyun ParkJakob AdmardMartina WilkeEmilio D.R.O. Harris-MostertMinetta ElgersmaJennifer BainMeena BalasubramanianSiddharth BankaPaul J. BenkeMiriam BertrandAlyssa E. BlessonJill Clayton-SmithJamie M. EllingfordMadelyn A. GillentineDana H. GoodloeTobias B. HaackMahim JainIan KrantzSharon M. LuuMolly McPheronCandace L. MussSarah E. RaibleNathaniel H. RobinMichael SpillerSusan StarlingDavid A. SweetserIsabelle ThiffaultFrancesco VetriniDennis WittEmily WoodsDihong ZhouJ.C. AmbroseP. ArumugamR. BeversM. BledaF. Boardman-PrettyC.R. BoustredH. BrittainM.A. BrownM.J. CaulfieldG.C. ChanA. GiessJ.N. GriffinA. HamblinS. HendersonT.J.P. HubbardR. JacksonL.J. JonesD. KasperaviciuteM. KayikciA. KousathanasL. LahnsteinA. LakeyS.E.A. LeighI.U.S. LeongF.J. LopezF. Maleady-CroweM. McEntagartF. MinneciJ. MitchellL. MoutsianasM. MuellerN. MurugaesuA.C. NeedP. O‘DonovanC.A. OdhamsC. PatchD. Perez-GilM.B. PereiraJ. PullingerT. RahimA. RendonT. RogersK. SavageK. SawantR.H. ScottA. SiddiqA. SieghartS.C. SmithA. SosinskyA. StuckeyM. TanguyA.L. Taylor TavaresE.R.A. ThomasS.R. ThompsonA. TucciM.J. WellandE. WilliamsK. WitkowskaS.M. WoodM. ZarowieckiMaria T. AcostaDavid R. AdamsRaquel L. AlvarezJustin AlveyAimee AllworthAshley AndrewsEuan A. AshleyBen AfzaliCarlos A. BacinoGuney BademciAshok BalasubramanyamDustin BaldridgeJim BaleMichael BamshadDeborah BarbouthPinar Bayrak-ToydemirAnita BeckAlan H. BeggsEdward BehrensGill BejeranoHugo J. BellenJimmy BennetJonathan A. BernsteinGerard T. BerryAnna BicanStephanie BivonaElizabeth BlueJohn BohnsackDevon BonnerLorenzo BottoGabrielle BrownElizabeth A. BurkeLindsay C. BurrageManish J. ButtePeter ByersWilliam E. ByrdJohn CareyOlveen CarrasquilloThomas CassiniTa Chen ChangSirisak ChanprasertHsiao-Tuan ChaoIvan ChinnGary D. ClarkTerra R. CoakleyLaurel A. CobbanJoy D. CoganMatthew CogginsF. Sessions ColeHeather A. ColleyHeidi CopeRosario CoronaWilliam J. CraigenAndrew B. CrouseMichael CunninghamPrecilla D'SouzaHongzheng DaiSurendra DasariJoie DavisJyoti G. DayalMargaret DelgadoEsteban C. Dell'AngelicaKatrina DippleDaniel DohertyNaghmeh DorraniArgenia L. DossEmilie D. DouineDawn EarlDavid J. EcksteinLisa T. EmrickChristine M. EngMarni FalkElizabeth L. FiegPaul G. FisherBrent L. FogelIrman ForghaniJiayu FuWilliam A. GahlIan GlassPage C. GoddardRena A. GodfreyAlana GrajewskiMeghan C. HalleyRizwan HamidNeal HanchardKelly HasseyNichole HayesFrances HighAnne HingFuki M. HisamaIngrid A. HolmJason HomMartha Horike-PyneAlden HuangYan HuangSarah HutchisonWendy IntroneRosario IsasiKosuke IzumiGail P. JarvikJeffrey JarvikSuman JayadevOrpa Jean-MarieVaidehi JobanputraEmerald KaitrynShamika KetkarDana KileyGonench KilichShilpa N. KobrenIsaac S. KohaneJennefer N. KohlerSusan KorrickDeborah KrakowDonna M. KrasnewichElijah KravetsSeema R. LalaniByron LamChristina LamBrendan C. LanpherIan R. LanzaKimberly LeBlancBrendan H. LeeRoy LevittRichard A. LewisPengfei LiuXue Zhong LiuNicola LongoSandra K. LooJoseph LoscalzoRichard L. MaasEllen F. MacnamaraCalum A. MacRaeValerie V. MaduroAudreyStephannie MaghiroRachel MahoneyMay Christine MalicdanLaura A. MamounasTeri A. ManolioRong MaoRonit MaromGabor MarthBeth A. MartinMartin G. MartinJulian A. Martínez-AgostoShruti MarwahaJacob McCauleyAllyn McConkie-RosellAlexa T. McCrayElisabeth McGeeMatthew MightDanny MillerGhayda MirzaaEva MoravaPaolo MorettiMarie MorimotoJohn J. MulvihillMariko Nakano-OkunoStanley F. NelsonShirley Nieves-RodriguezDonna NovacicDevin OglesbeeJames P. OrengoLaura PaceStephen PakJ. Carl PallaisJeanette C. PappNeil H. ParkerLeoyklang PetcharetJohn A. PhillipsJennifer E. PoseyLorraine PotockiBarbara N. SwerdzewskiAaron QuinlanDeepak A. RaoAnna RaperWendy RaskindGenecee RenteriaChloe ReuterLynette RivesAmy K. RobertsonLance H. RodanJill A. RosenfeldElizabeth RosenthalFrancis RossignolMaura RuzhnikovMarla SabaiiRalph SaccoJacinda B. SampsonMario SaportaJudy SchaechterTimothy SchedlKelly SchochDaryl A. ScottElaine SetoPrashant SharmaVandana ShashiEmily ShelkowitzSam SheppeardJimann ShinEdwin SilvermanJanet SinsheimerKathy SiscoEdward SmithKevin SmithLilianna Solnica-KrezelBen SolomonRebecca SpillmannAndrew StergachisJoan StolerKathleen SullivanJennifer SullivanShirley SuttonVirginia SybertHolly K. TaborQueenie K.-G. TanAmelia L. TanArjun TarakadMustafa TekinFred TelischiWilla ThorsonCynthia TifftCamilo ToroAlyssa A. TranRachel A. UngarTiina K. UrvAdeline VanderverMatt VelinderDave ViskochilTiphanie P. VogelColleen E. WahlMelissa WalkerNicole M. WalleyJennifer WambachJijun WanLee-kai WangMichael F. WanglerPatricia A. WardDaniel WegnerMonika WeiszMark WenerTara WengerMonte WesterfieldMatthew T. WheelerJordan WhitlockLynne A. WolfeShinya YamamotoZhe ZhangStephan ZuchnerYpe ElgersmaAnnelot C.M. van Esbroeck
Genomics England Research Consortium, Undiagnosed Diseases Network, Niggl, E, Bouman, A, Briere, L C, Hoogenboezem, R M, Wallaard, I, Park, J, Admard, J, Wilke, M, Harris-Mostert, E D R O, Elgersma, M, Balasubramanian, M, Banka, S, Benke, P J, Bertrand, M, Blesson, A E, Clayton-Smith, J, Ellingford, J M, Gillentine, M A, Goodloe, D H, Haack, T B, Jain, M, Krantz, I, Luu, S M, McPheron, M, Muss, C L, Raible, S E, Robin, N H, Sweetser, D A, Thiffault, I, Vetrini, F, Witt, D, Woods, E, Zhou, D, Elgersma, Y & van Esbroeck, A C M 2023, 'HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder', American Journal of Human Genetics, vol. 110, no. 8, pp. 1414-1435. https://doi.org/10.1016/j.ajhg.2023.07.005
Academic Journal
Emily BanksVincent FrancisSheng-Jia LinFares KharfallahVladimir FonovMaxime LévesqueChanshuai HanGopinath KulasekaranMarius TuznikArmin BayatiReem Al-KhaterFowzan S. AlkurayaLoukas ArgyriouMeisam BabaeiMelanie BahloBehnoosh BakhshoodehEileen BarrLauren BartikMahmoud BassionyMiriam BertrandDominique BraunRebecca BuchertMauro BudettaMaxime Cadieux-DionDaniel G. CalameHeidi CopeDonna CushingStephanie EfthymiouMarwa Abd ElmaksoudHuda G. El SaidTawfiq FroukhHarinder K. GillJoseph G. GleesonLaura GogollElaine S.-Y. GohVykuntaraju K. GowdaTobias B. HaackMais O. HashemStefan HauserTrevor L. HoffmanJacob S. HogueAkimoto HosokawaHenry HouldenKevin HuangStephanie HuynhEhsan G. KarimianiSilke KaulfußG. Christoph KorenkeAmy KritzerHane LeeJames R. LupskiElysa J. MarcoKirsty McWalterArakel MinassianBerge A. MinassianDavid MurphyJuanita Neira-FresnedaHope NorthrupDenis M. NyagaBarbara Oehl-JaschkowitzMatthew OsmondRichard PersonDavut PehlivanCassidy PetreeLynette G. SadleirCarol SaundersLudger SchoelsVandana ShashiRebecca C. SpillmannVarunvenkat M. SrinivasanParia N. TorbatiTulay TosMaha S. ZakiDihong ZhouChristiane ZweierJean-François TrempeThomas M. DurcanZiv Gan-OrMassimo AvoliCesar AlvesGaurav K. VarshneyReza MaroofianDavid A. RudkoPeter S. McPherson
medRxiv
Nat Commun
Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)
Nature Communications 15(1), 7239 (2024). doi:10.1038/s41467-024-51310-z
Banks, Emily; Francis, Vincent; Lin, Sheng-Jia; Kharfallah, Fares; Fonov, Vladimir; Lévesque, Maxime; Han, Chanshuai; Kulasekaran, Gopinath; Tuznik, Marius; Bayati, Armin; Al-Khater, Reem; Alkuraya, Fowzan S; Argyriou, Loukas; Babaei, Meisam; Bahlo, Melanie; Bakhshoodeh, Behnoosh; Barr, Eileen; Bartik, Lauren; Bassiony, Mahmoud; Bertrand, Miriam; ... (2024). Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. Nature communications, 15(7239) Nature Publishing Group 10.1038/s41467-024-51310-z
Banks, Emily; Francis, Vincent; Lin, Sheng-Jia; Kharfallah, Fares; Fonov, Vladimir; Lévesque, Maxime; Han, Chanshuai; Kulasekaran, Gopinath; Tuznik, Marius; Bayati, Armin; Al-Khater, Reem; Alkuraya, Fowzan S; Argyriou, Loukas; Babaei, Meisam; Bahlo, Melanie; Bakhshoodeh, Behnoosh; Barr, Eileen; Bartik, Lauren; Bassiony, Mahmoud; Bertrand, Miriam; ... (2024). Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. Nature communications, 15(1), p. 7239. Nature Publishing Group 10.1038/s41467-024-51310-z
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[AR] Miriam Bertrand
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