학술논문


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발행년
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(예 : 2010-2015)
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'학술논문' 에서 검색결과 172건 | 목록 1~20
Academic Journal
Robert BenthamThomas P. JonesJames R. M. BlackCarlos Martinez-RuizMichelle DietzenMaria LitovchenkoKerstin TholThomas B. K. WatkinsChris BaileyOriol PichZhihui ZhangPeter Van LooMariam Jamal-HanjaniCarlos Martínez-RuizTakahiro KarasakiAbigail BunkumSonya HesseyWing Kin LiuNicolai J. BirkbakAlexander M. FrankellAriana HuebnerClare PuttickCrispin T. HileyDavid A. MooreDhruva BiswasEmilia L. LimKristiana GrigoriadisMaise Al BakirOlivia LucasRoberto VendraminSophia WardSian HarriesSimone ZaccariaRija ZaidiLucrezia PatrunoDespoina KaragianniSergio A. QuezadaSupreet Kaur BolaMartin D. ForsterSiow Ming LeeCorentin RichardCristina Naceur-LombardelliFrancisco Gimeno-ValienteKrupa ThakkarMonica SivakumarNnennaya KanuIeva UsaiteSadegh SaghafiniaSelvaraju VeeriahSharon VanlooAntonia TonchevaPaulina PrymasBushra MussaMichalina MagalaElizabeth KeeneMichelle M. LeungGareth A. WilsonRachel RosenthalAndrew RowanClaudia LeeEmma ColliverKatey S. S. EnfieldMihaela AngelovaCian MurphyMaria ZagorulyaTeresa MarafiotiElaine BorgMary FalzonReena KhiroyaYien Ning Sophia WongEmilie Martinoni HoogenboomFleur MonkJames W. HoldingJunaid ChoudharyKunal BhakhriPat GormanRobert C. M. StephensMaria Chiara PisciellaSteve BandulaJerome NicodAngela DwornikAngeliki KaramaniBenny ChainDavid R. PearceGeorgia StavrouGerasimos-Theodoros MastrokalosHelen L. LoweJames L. ReadingJohn A. HartleyKayalvizhi SelvarajuLeah EnsellMansi ShahPiotr PawlikSamuel GambleSeng Kuong Anakin UngVictoria SpanswickYin WuJason F. LesterSean DullooDean A. FennellAmrita BajajApostolos NakasAzmina Sodha-RamdeenMohamad TufailMolly ScotlandRebecca BoylesSridhar RathinamClaire WilsonGurdeep MatharuJacqui A. ShawEkaterini BoletiHeather CheyneMohammed KhalilShirley RichardsonTracey CruickshankGillian PriceKeith M. KerrSarah BenafifDionysis Papadatos-PastosJames WilsonTanya AhmadJack FrenchKayleigh GilbertBabu NaiduAkshay J. PatelGary MiddletonAya OsmanMandeesh SanghaGerald LangmanHelen ShacklefordMadava DjearamanAngela LeekJack Davies HodgkinsonNicola TottonPhilip CrosbieEustace FontaineFelice GranatoJuliette NovasioKendadai RammohanLeena JosephPaul BishopVijay JoshiSara WaplingtonAdam AtkinKatherine D. BrownMathew CarterAnshuman ChaturvediPedro OliveiraColin R. LindsayFiona H. BlackhallYvonne SummersMatthew G. KrebsAntonio Paiva-CorreiaJonathan TugwoodCaroline DiveHugo J. W. L. AertsRoland F. SchwarzTom L. KaufmannZoltan SzallasiMiklos DiossyRoberto SalgadoJonas DemeulemeesterCarla CastignaniStephan BeckGeorge KassiotisImran NooraniClare E. WeedenEva GrönroosJacki GoldmanMickael EscuderoPhilip HobsonStefan BoeingTamara DennerVittorio BarbèWei-Ting LuWilliam HillYutaka NaitoErik SahaiZoe RamsdenEmma NyeRichard Kevin StoneJayant K. RaneJeanette KittelKerstin HaaseKexin KohRachel ScottKarl S. PeggsCatarina VeigaGary RoyleCharles-Antoine Collins-FeketeFrancesco FraioliPaul AshfordArjun NairAlexander James ProcterAsia AhmedMagali N. TaylorDavid LawrenceDavide PatriniNeal NavaniRicky M. ThakrarSam M. JanesZoltan KaplarAllan HackshawCamilla PilottiRachel LeslieAnne-Marie HackerSean SmithAoife WalkerAnca GrapaHanyun ZhangKhalid AbdulJabbarXiaoxi PanYinyin YuanDavid ChuterMairead MacKenzieSerena CheePatricia GeorgAiman AlzetaniJudith CaveEric LimAndrew G. NicholsonPaulo De SousaSimon JordanAlexandra RiceHilgardt RaubenheimerHarshil BhayaniLyn AmbroseAnand DevarajHema ChavanSofina BegumSilviu I. BuderiDaniel KaniuMpho MalimaSarah BoothNadia FernandesPratibha ShahChiara ProliMadeleine HewishSarah DansonMichael J. ShackclothLily RobinsonPeter RussellKevin G. BlythAndrew KiddCraig DickJohn Le QuesneAlan KirkMo AsifRocco BilanciaNikos KostoulasJennifer WhiteleyMathew ThomasJ. C. AmbroseP. ArumugamE. L. BapleM. BledaF. Boardman-PrettyJ. M. BoissiereC. R. BoustredH. BrittainM. J. CaulfieldG. C. ChanC. E. H. CraigL. C. DaughertyA. de BurcaA. DevereauG. ElgarR. E. FoulgerT. FowlerP. Furió-TaríJ. M. HackettD. HalaiA. HamblinS. HendersonJ. E. HolmanT. J. P. HubbardK. IbáñezR. JacksonL. J. JonesD. KasperaviciuteM. KayikciL. LahnsteinL. LawsonS. E. A. LeighI. U. S. LeongF. J. LopezF. Maleady-CroweJ. MasonE. M. McDonaghL. MoutsianasM. MuellerN. MurugaesuA. C. NeedC. A. OdhamsC. PatchD. Perez-GilD. PolychronopoulosJ. PullingerT. RahimA. RendonP. Riesgo-FerreiroT. RogersM. RytenK. SavageK. SawantR. H. ScottA. SiddiqA. SieghartD. SmedleyK. R. SmithA. SosinskyW. SpoonerH. E. StevensA. StuckeyR. SultanaE. R. A. ThomasS. R. ThompsonC. TregidgoA. TucciE. WalshS. A. WattersM. J. WellandE. WilliamsK. WitkowskaS. M. WoodM. ZarowieckiCharles SwantonNicholas McGranahan
Nat Genet
TRACERx Consortium & Genomics England Consortium 2025, 'ImmuneLENS characterizes systemic immune dysregulation in aging and cancer', Nature Genetics, vol. 57, no. 3, 305, pp. 694-705. https://doi.org/10.1038/s41588-025-02086-5
Academic Journal
Zagorec, NikolaCalamel, AlizéeDelaporte, MargauxOlinger, EricOrr, SarahSayer, John A.Pillay, Vignesh-GuruDenommé-Pichon, Anne-SophieTran Mau-Them, FredericNambot, SophieFaivre, LaurenceArs, ElisabetTorra, RoserOng, Albert C.M.Devuyst, OlivierPerico, NobertoDesprés, Aurore MichelLemoine, Hugode Fallois, JonathanBrousse, RomainHummel, AurélieKnebelmann, BertrandMaisonneuve, NathalieHalbritter, JanLe Meur, YannickAudrézet, Marie-PierreCornec-Le Gall, EmilieWinterbottom, JeanSimms, Roslyn J.Caroli, AnnaDemoulin, NathalieFurlano, MonicaPybus, MarcGansevoort, RonMeijer, EstherGrall, A.Moal, M.C.Tanquerel, T.Hanrotel, C.Segalen, I.Lanfranco, L.C, MesguenA, KersaleA, CapdevilleV, HuynhHourmant, M.Dantal, J.Giral, M.Meurette, A.Lino, M.Garandeau, C.Hodemon-Corne, B.Allain-Launay, E.Cantarovich, D.Blancho, G.Hristea, D.Couvrat, G.Fakhouri, F.Lavainne, F.Vercel, C.Chapal, M.Le Fur, A.Gourraud, C.Deltombe, C.Vigneau, C.Morin, M.P.Le Pogamp, P.Frouget, T.Gie, S.Rivalan, J.Laruelle, E.Richer, C.Lorcy, N.Golbin, L.Terrasse, M.Morice, S.Brenier, H.Michel, A.Tomkiewicz, E.Nguyen, Q.L.Vabret, E.Lavergne, A.Pierre, E.Chemouny, J.Halimi, J.M.Longuet, H.Gatault, P.Merieau, E.Barbet, C.Buchler, M.Golea, G.Ghouti, L.Gautard, D.Sautenet, B.François, M.Fournier, A.Baron, C.Salmon, C.Rabot, N.Prat, L.Valentin, J.F.Chevallier, E.Birmele, B.Genest, C.Goin, N.Goumard, A.Bridoux, F.Desport, E.Thierry, A.Ecotiere, L.Touchard, G.Belmouaz, M.Javaugue, V.Bauwens, M.Fride-Leroy, F.Goussard, G.Bouteau, I.Jacquemont, L.Subra, J.F.Augusto, J.F.Duveau, A.Besson, V.Cousin, M.Sayegh, J.Onno, C.Maghakian, M.N.Demiselle, J.Deschamps, C.Garnier, A.S.Guibert, F.Planchais, M.Charasse, C.Stanescu, C.Le Cacheux, P.Baluta, S.Leonetti, F.Boulahrouz, R.Ferrier, M.L.Freguin, C.Simon, A.Potier, J.Coulibaly, J.M.Colombo, A.Delezire, A.Renaudineau, E.Dolley-Hitze, T.Perrichot, R.Michez, E.Mandart, L.Menoyo, V.Pincon, E.Muresan, C.Durand, P.Y.Corlu, L.Wegner, I.Siohan, P.Metes, I.Guyon-Roger, T.Wehbe, B.Gueguen, L.Drouet, C.Loheac, C.Sawadogo, T.Le Guillou, A.Le Jeune, M.Beillard, G.Lefevre, S.Chamontin, C.Georgescu, S.Jousset, P.Latif, R.Massad, M.Jaulin, J.P.Querard, A.H.Ottavioli, J.N.Target, N.Chapal, A.Charpy, V.Besnier, D.Regnier-Le Coz, S.Blanpain, A.Durault, S.Larmet, D.Le Clech, A.Pouteau, L.M.Labatut, D.Coindre, J.P.Sigogne, M.Piccoli, G.Bachelet-Rousseau, C.Delbes, S.Fritz, O.Pourreau, F.Mzoughi, S.Guillodo, M.P.Gosselin, M.Depraetre, P.Strullu, B.Chaffara, E.Le Mee, M.Terki, N.Goulesque, K.Benarbia, S.Dimulescu, M.Rifaat, M.Duneau, G.Legrand, D.Georges, E.Seret, G.Babinet, F.Lanoiselee, S.Savoiu, C.Testa, A.Oancea, I.Coupel, I.Parahy, S.Lefrancois, G.Briand, E.Bugnon, D.Ambrose, John C.Arumugam, PrabhuBevers, RoelBleda, MartaBoustred, Christopher R.Brittain, HelenChan, Georgia C.Fowler, TomGiess, AdamHamblin, AngelaHubbard, Tim J.P.Jackson, RobKayikci, MelisKousathanas, AthanasiosLahnstein, LeaLeigh, Sarah E.A.Leong, Ivonne U.S.Lopez, Javier F.Maleady-Crowe, FionaMcEntagart, MerielMinneci, FedericoMurugaesu, NirupaO’Donovan, PeterOdhams, Chris A.Pereira, Mariana BuongerminoPerez-Gil, DanielPullinger, JohnRahim, TahrimaRendon, AugustoRogers, TimSavage, KevinSawant, KushmitaScott, Richard H.Siddiq, AfshanSieghart, AlexanderSmith, Samuel C.Stuckey, AlexanderTanguy, MélanieTaylor Tavares, Ana LisaThompson, Simon R.Welland, Matthew J.Williams, EleanorBoardman-Pretty, FreyaMoutsianas, LoukasMueller, MichaelCaulfield, Mark J.Elgar, GregHenderson, ShirleyJones, Louise J.Kasperaviciute, DaliaNeed, Anna C.Patch, ChristineSosinsky, AlonaThomas, Ellen R.A.Tucci, AriannaWitkowska, KatarzynaWood, Suzanne M.
American Journal of Kidney Diseases. 85(4):465-476
Academic Journal
Ria SchönauerDana SierksMelissa BoerrigterTabinda JawaidLea CaroffMarie-Pierre AudrezetAnja FriedrichMelissa ShawJan DegenhardtMirjam ForbergerJonathan de FalloisHendrik BläkerCarsten BergmannJuliana GödikerPhilipp SchindlerBernhard SchlevogtRoman-U. MüllerThomas BergIlse PattersonWilliam J. GriffithsJohn A. SayerJohn C. AmbrosePrabhu ArumugamRoel BeversMarta BledaFreya Boardman-PrettyChristopher R. BoustredHelen BrittainMark J. CaulfieldGeorgia C. ChanGreg ElgarTom FowlerAdam GiessAngela HamblinShirley HendersonTim J.P. HubbardRob JacksonLouise J. JonesDalia KasperaviciuteMelis KayikciAthanasios KousathanasLea LahnsteinSarah E.A. LeighIvonne U.S. LeongJavier F. LopezFiona Maleady-CroweMeriel McEntagartFederico MinneciLoukas MoutsianasMichael MuellerNirupa MurugaesuAnna C. NeedPeter O’DonovanChris A. OdhamsChristine PatchMariana Buongermino PereiraDaniel Perez-GilJohn PullingerTahrima RahimAugusto RendonTim RogersKevin SavageKushmita SawantRichard H. ScottAfshan SiddiqAlexander SieghartSamuel C. SmithAlona SosinskyAlexander StuckeyMélanie TanguyAna Lisa Taylor TavaresEllen R.A. ThomasSimon R. ThompsonArianna TucciMatthew J. WellandEleanor WilliamsKatarzyna WitkowskaSuzanne M. WoodBernt PoppVicente E. TorresMarie C. HoganStefan SomloTerry J. WatnickFrederik NevensWhitney BesseEmilie Cornec-Le GallPeter C. HarrisJoost P.H. DrenthJan Halbritter
Gastroenterology, 166, 5, pp. 902-914
Academic Journal
Laura R. ClausChuan ChenJennifer StallworthJoshua L. TurnerGisela G. SlaatsAlexandra L. HawksHolly MabillardSarah R. SenumSujata SrikanthHeather Flanagan-SteetRaymond J. LouieJosh SilverJordan Lerner-EllisChantal MorelChloe MightonFrank SleutelsMarjon van SlegtenhorstTjakko van HamAlice S. BrooksEiske M. DorresteijnTahsin Stefan BarakatKarin DahanNathalie DemoulinEric Jean GoffinEric OlingerJohn C. AmbrosePrabhu ArumugamRoel BeversMarta BledaFreya Boardman-PrettyChristopher R. BoustredHelen BrittainMark J. CaulfieldGeorgia C. ChanGreg ElgarTom FowlerAdam GiessAngela HamblinShirley HendersonTim J.P. HubbardRob JacksonLouise J. JonesDalia KasperaviciuteMelis KayikciAthanasios KousathanasLea LahnsteinSarah E.A. LeighIvonne U.S. LeongJavier F. LopezFiona Maleady-CroweMeriel McEntagartFederico MinneciLoukas MoutsianasMichael MuellerNirupa MurugaesuAnna C. NeedPeter O’DonovanChris A. OdhamsChristine PatchMariana Buongermino PereiraDaniel Perez-GilJohn PullingerTahrima RahimAugusto RendonTim RogersKevin SavageKushmita SawantRichard H. ScottAfshan SiddiqAlexander SieghartSamuel C. SmithAlona SosinskyAlexander StuckeyMélanie TanguyAna Lisa Taylor TavaresEllen R.A. ThomasSimon R. ThompsonArianna TucciMatthew J. WellandEleanor WilliamsKatarzyna WitkowskaSuzanne M. WoodMartin LarsenJens Michael HertzMarc R. LilienLena ObeidováTomas SeemanHillarey K. StoneLarissa KerecukMihai GurguFjodor A. Yousef YengejCarola M.E. AmmerlaanMaarten B. RookmaakerChristian HannaR. Curtis RogersKaren DuranEdith PetersJohn A. SayerGijs van HaaftenPeter C. HarrisKun LingJennifer M. MasonAlbertien M. van EerdeRichard Steet
Kidney International, Vol. 104, no. 5, p. 995-1007 (2023)
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
Annalisa VetroCristiana PelorossoSimona BalestriniAlessio MasiSophie HambletonEmanuela ArgilliValerio ContiSimone GiubboliniRebekah BarrickGaber BergantKarin WritzlEmilia K. BijlsmaTheresa BrunetPilar CacheiroDavide MeiAnita DevlinMariëtte J.V. HofferKeren MacholGuido MannaioniMasamune SakamotoManoj P. MenezesThomas CourtinElliott SherrRiccardo ParraRuth RichardsonTony RoscioliMarcello ScalaCelina von StülpnagelDamian SmedleyFrancesca PochieroFrancesco MariVenkateswaran RameshValeria CapraMargherita MancardiBoris KerenCyiril MignotMatteo LulliKendall ParksHelen GriffinMelanie BruggerVincenzo NigroYuko HirataReiko KoichiharaBorut PeterlinRyuto MakiYohei NittaJohn C. AmbrosePrabhu ArumugamRoel BeversMarta BledaFreya Boardman-PrettyChristopher R. BoustredHelen BrittainMatthew A. BrownMark J. CaulfieldGeorgia C. ChanAdam GiessJohn N. GriffinAngela HamblinShirley HendersonTim J.P. HubbardRob JacksonLouise J. JonesDalia KasperaviciuteMelis KayikciAthanasios KousathanasLea LahnsteinAnna LakeySarah E.A. LeighIvonne U.S. LeongJavier F. LopezFiona Maleady-CroweMeriel McEntagartFederico MinneciJonathan MitchellLoukas MoutsianasMichael MuellerNirupa MurugaesuAnna C. NeedPeter O’DonovanChris A. OdhamsChristine PatchDaniel Perez-GilMarina B. PereiraJohn PullingerTahrima RahimAugusto RendonTim RogersKevin SavageKushmita SawantRichard H. ScottAfshan SiddiqAlexander SieghartSamuel C. SmithAlona SosinskyAlexander StuckeyMélanie TanguyAna Lisa Taylor TavaresEllen R.A. ThomasSimon R. ThompsonArianna TucciMatthew J. WellandEleanor WilliamsKatarzyna WitkowskaSuzanne M. WoodMagdalena ZarowieckiAnnalaura TorellaJun TohyamaKeisuke HamadaKazuhiro OgataTakashi SuzukiAtsushi SugieJasper J. van der SmagtKoen van GassenStephanie ValenceEmma VitteryStephen MaloneMitsuhiro KatoNaomichi MatsumotoGian Michele RattoRenzo Guerrini
Am J Hum Genet
American journal of human genetics 110 (2023): 1356–1376. doi:10.1016/j.ajhg.2023.06.008
info:cnr-pdr/source/autori:Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K.; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte J.V.; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P.; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina;Smedley, Damian;Pochiero, Francesca; Mari, Francesco; Ramesh, Venkateswaran; Capra, Valeria; Mancardi, Margherita; Keren, Boris; Mignot, Cyiril; Lulli, Matteo; Parks, Kendall; Griffin, Helen; Brugger, Melanie; Nigro, Vincenzo; Hirata, Yuko; Koichihara, Reiko; Peterlin, Borut; Maki, Ryuto; Nitta, Yohei; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Brown, Matthew A.; Caulfield, Mark J.; Chan, Georgia C.; Giess, Adam; Griffin, John N.; Hamblin, Angela; Henderson, Shirley;/titolo:Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration/doi:10.1016%2Fj.ajhg.2023.06.008/rivista:American journal of human genetics/anno:2023/pagina_da:1356/pagina_a:1376/intervallo_pagine:1356–1376/volume:110
American Journal of Human Genetics, vol 110, iss 8
Academic Journal
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Academic Journal
Matteo ZanovelloKristina IbáñezAnna-Leigh BrownPrasanth SivakumarAlessandro BombaciLiana SantosJoke J F A van VugtGiuseppe NarzisiRamita KarraSonja W ScholzJinhui DingJ Raphael GibbsAdriano ChiòClifton DalgardBen WeisburdJohn C AmbrosePrabhu ArumugamRoel BeversMarta BledaFreya Boardman-PrettyChristopher R BoustredHelen BrittainMark J CaulfieldGeorgia C ChanGreg ElgarTom FowlerAdam GiessAngela HamblinShirley HendersonTim J P HubbardRob JacksonLouise J JonesDalia KasperaviciuteMelis KayikciAthanasios KousathanasLea LahnsteinSarah E A LeighIvonne U S LeongJavier F LopezFiona Maleady-CroweMeriel McEntagartFederico MinneciLoukas MoutsianasMichael MuellerNirupa MurugaesuAnna C NeedPeter O’DonovanChris A OdhamsChristine PatchMariana Buongermino PereiraDaniel Perez-GilJohn PullingerTahrima RahimAugusto RendonTim RogersKevin SavageKushmita SawantRichard H ScottAfshan SiddiqAlexander SieghartSamuel C SmithAlona SosinskyAlexander StuckeyMélanie TanguyAna Lisa Taylor TavaresEllen R A ThomasSimon R ThompsonArianna TucciMatthew J WellandEleanor WilliamsKatarzyna WitkowskaSuzanne M WoodWouter Van RheenenSara L PulitAnnelot M DekkerAhmad Al KhleifatWilliam J BrandsAlfredo IacoangeliKevin P KennaErsen KavakMaarten KooymanRussell L McLaughlinBas MiddelkoopMatthieu MoisseRaymond D SchellevisAleksey ShatunovWilliam SprovieroGijs H P TazelaarRick A A Van der SpekPerry T C Van DoormaalKristel R Van EijkJoke Van VugtA Nazli BasakIan P BlairJonathan D GlassOrla HardimanWinston HideJohn E LandersJesus S MoraKaren E MorrisonStephen NewhouseWim RobberechtChristopher E ShawPamela J ShawPhilip Van DammeMichael A Van EsNaomi R WrayAmmar Al-ChalabiLeonard H Van den BergJan H VeldinkMichael G HannaLinda GreensmithHemali PhatnaniBryan J TraynorJames PolkeHenry HouldenPietro Fratta
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Samar YahyaClaire E.L. SmithJames A. PoulterMartin McKibbinGavin ArnoJamie EllingfordKati KämpjärviMuhammad I. KhanFrans P.M. CremersAlison J. HardcastleBruce CastleDavid H.W. SteelAndrew R. WebsterGraeme C. BlackMohammed E. El-AsragManir AliCarmel ToomesChris F. InglehearnStuart IngramRachel TaylorForbes MansonPanagiotis SergouniotisNikolas PontikosMichael CheethamAlessia FiorentinoSusan DownesJing YuStephanie HalfordSuzanne BroadgateVeronica van HeyningenJohn C. AmbrosePrabhu ArumugamRoel BeversMarta BledaFreya Boardman-PrettyChristopher R. BoustredHelen BrittainMark J. CaulfieldGeorgia C. ChanGreg ElgarTom FowlerAdam GiessAngela HamblinShirley HendersonTim J.P. HubbardRob JacksonLouise J. JonesDalia KasperaviciuteMelis KayikciAthanasios KousathanasLea LahnsteinSarah E.A. LeighIvonne U.S. LeongJavier F. LopezFiona Maleady-CroweMeriel McEntagartFederico MinneciLoukas MoutsianasMichael MuellerNirupa MurugaesuAnna C. NeedPeter O’DonovanChris A. OdhamsChristine PatchMariana Buongermino PereiraDaniel Perez-GilJohn PullingerTahrima RahimAugusto RendonTim RogersKevin SavageKushmita SawantRichard H. ScottAfshan SiddiqAlexander SieghartSamuel C. SmithAlona SosinskyAlexander StuckeyMélanie TanguyAna Lisa Taylor TavaresEllen R.A. ThomasSimon R. ThompsonArianna TucciMatthew J. WellandEleanor WilliamsKatarzyna WitkowskaSuzanne M. Wood
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