학술논문


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발행년
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(예 : 2010-2015)
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'학술논문' 에서 검색결과 118건 | 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
Benkirane, MehdiBonhomme, MarionMorsy, HebaSafgren, StephanieMarelli, CeciliaChaussenot, AnnabelleSmedley, DamianCipriani, Valentinade Sainte-Agathe, Jean-MadeleineDing, CanLarrieu, LiseVestito, LetiziaMargot, HenriLesca, GaetanRamond, FrancisCastrioto, AnnaBaux, DavidVerheijen, JanSansa, EmnaGiunti, PaolaHaetty, AlineBergougnoux, AnnePointaux, MorganeArdouin, Oliviervan Goethem, CharlesVincent, Marie-ClaireHadjivassiliou, MariosCossée, MireilleRouaud, TiphaineBartsch, OliverFreeman, WilliamWierenga, KlaasKlee, EricVandrovcova, JanaHoulden, HenryDebant, AnneKoenig, MichelAmbrose, JArumugam, PBaple, EBleda, MBoardman-Pretty, FBoissiere, JBoustred, CBrittain, HCaulfield, MChan, GCraig, CDaugherty, Lde Burca, ADevereau, AElgar, GFoulger, RFowler, TFurió-Tarí, PHackett, JHalai, DHamblin, AHenderson, SHolman, JHubbard, TIbáñez, KJackson, RJones, LKasperaviciute, DKayikci, MLahnstein, LLawson, KLeigh, SLeong, ILopez, FMaleady-Crowe, FMason, JMcdonagh, EMoutsianas, LMueller, MMurugaesu, NNeed, AOdhams, CPatch, CPerez-Gil, DPolychronopoulos, DPullinger, JRahim, TRendon, ARiesgo-Ferreiro, PRogers, TRyten, MSavage, KSawant, KScott, RSiddiq, ASieghart, ASmedley, DSmith, KSosinsky, ASpooner, WStevens, HStuckey, ASultana, RThomas, EThompson, STregidgo, CTucci, AWalsh, EWatters, SWelland, MWilliams, EWitkowska, KWood, SZarowiecki, M
Brain. 147:3681-3689
Academic Journal
Natalia DominikStefania MagriRiccardo CurròElena AbatiStefano FacchiniMarinella CorbettaHannah MacphersonDaniela Di BellaElisa SartoIgor StevanovskiSanjog R ChintalaphaniFulya AkcimenArianna ManiniElisa VegezziIlaria QuartesanKylie-Ann MontgomeryValentina PirotaEmmanuele CrespanCecilia PeriniGlenda Paola GrupelliPedro J TomaselliWilson MarquesJ 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-TaríE GustavssonJ M HackettD HalaiA HamblinS HendersonJ E HolmanT J P HubbardK IbáñezR JacksonL J JonesD KasperaviciuteM KayikciL LahnsteinK 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 RytenB RuggininiK 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 ZarowieckiJoseph ShawJames PolkeEttore SalsanoSilvia FenuDavide PareysonChiara PisciottaGeorge K TofarisAndrea H NemethJohn EalingAleksandar RadunovicSeamus KearneyKishore R KumarSteve VucicMarina KennersonMary M ReillyHenry HouldenIra DevesonArianna TucciFranco TaroniAndrea Cortese
Brain
Academic Journal
Ambrose, J.C.Arumugam, P.Baple, E.L.Bleda, M.Boardman-Pretty, F.Boissiere, J.M.Boustred, C.R.Brittain, H.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.Furió-Tarí, 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.Maleady-Crowe, 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.Tregidgo, C.Tucci, A.Walsh, E.Watters, S.A.Welland, M.J.Williams, E.Witkowska, K.Wood, S.M.Zarowiecki, M.Morsy, HebaBenkirane, MehdiCali, ElisaRocca, ClarissaZhelcheska, KristinaCipriani, ValentinaGalanaki, EvangeliaMaroofian, RezaEfthymiou, StephanieMurphy, DavidO’Driscoll, MarySuri, MohnishBanka, SiddharthClayton-Smith, JillWright, ThomasRedman, MelodyBassetti, Jennifer A.Nizon, MathildeCogne, BenjaminJamra, Rami AbuBartolomaeus, TobiasHeruth, MarionKrey, IlonaGburek-Augustat, JaninaWieczorek, DagmarGattermann, FelixMcentagart, MerielGoldenberg, AliceGuyant-Marechal, LucieGarcia-Moreno, HectorGiunti, PaolaChabrol, BrigitteBacrot, SeverineBuissonnière, RogerMagry, VirginieGowda, Vykuntaraju K.Srinivasan, Varunvenkat M.Melegh, BélaSzabó, AndrásSümegi, KatalinCossée, MireilleZiff, MonicaButterfield, RussellHunt, DavidBird-Lieberman, GeorginaHanna, MichaelKoenig, MichelStankewich, MichaelVandrovcova, JanaHoulden, Henry
In Genetics in Medicine January 2023 25(1):76-89
Academic Journal
Park, JoohyunTucci, AriannaCali, ElisaRyten, M.Savage, K.Sawant, K.Scott, R. H.Siddiq, A.Sieghart, A.Smedley, D.Smith, K. R.Sosinsky, A.Spooner, W.Vestito, LetiziaStevens, H. E.Stuckey, A.Sultana, R.Thomas, E. R. A.Thompson, S. R.Tregidgo, C.Tucci, A.Walsh, E.Watters, S. A.Welland, M. J.Maroofian, RezaWilliams, E.Witkowska, K.Wood, S. M.Zarowiecki, M.Deininger, NatalieRautenberg, MarenAdmard, JakobHahn, Gesa-AstridBartels, Claudiusvan Os, Nienke J HHorvath, RitaCipriani, ValentinaChinnery, Patrick FTiet, May YungHewamadduma, ChannaHadjivassiliou, MariosTofaris, George KConsortium, Genomics England ResearchWood, Nicholas WHayer, Stefanie NBender, FriedemannMenden, BenitaDemidov, GermanCordts, IsabellKlein, KatrinNguyen, Huu PhucKrauss, Joachim KBlahak, ChristianStrom, Tim MSturm, Marcvan de Warrenburg, BartLerche, HolgerMaček, BorisRocca, ClarissaSynofzik, MatthisOssowski, StephanTimmann, DagmarWolf, Marc ESmedley, DamianRiess, OlafSchöls, LudgerHoulden, HenryHaack, Tobias BHengel, HolgerSenderek, JanAmbrose, J. C.Arumugam, P.Baple, E. L.Bleda, M.Boardman-Pretty, F.Boissiere, J. M.Boustred, C. R.Brittain, H.Caulfield, M. J.Chan, G. C.Butryn, MichaelaCraig, C. E. H.Daugherty, L. C.de Burca, A.Devereau, A.Elgar, G.Foulger, R. E.Fowler, T.Furió-Tarí, P.Hackett, J. M.Halai, D.Velic, AnaHamblin, A.Henderson, S.Holman, J. E.Hubbard, T. J. P.Ibáñez, K.Jackson, R.Jones, L. J.Kasperaviciute, D.Kayikci, M.Lahnstein, L.Lam, TanyaLawson, K.Leigh, S. E. A.Leong, I. U. S.Lopez, F. J.Maleady-Crowe, F.Mason, J.McDonagh, E. M.Moutsianas, L.Mueller, M.Murugaesu, N.Galanaki, EvangeliaNeed, A. C.Odhams, C. A.Patch, C.Perez-Gil, D.Polychronopoulos, D.Pullinger, J.Rahim, T.Rendon, A.Riesgo-Ferreiro, P.Rogers, T.
Genetics in medicine 24(10), 2079-2090 (2022). doi:10.1016/j.gim.2022.07.006
Genetics in Medicine, 24, 10, pp. 2079-2090
Academic Journal
Alistair T PagnamentaRauan KaiyrzhanovYaqun ZouSahar I Da'asReza MaroofianSandra DonkervoortNatalia DominikMarlen LaufferMatteo P FerlaAndrea OrioliAdam GiessArianna TucciChristian BeetzMaryam SedghiBehnaz AnsariRita BarresiKeivan BasiriAndrea CorteseGreg ElgarMiguel A Fernandez-GarciaJanice YipA Reghan FoleyNicholas GutowskiHeinz JungbluthSaskia LasscheTim LavinCarlo MarcelisPeter MarksChiara Marini-BettoloLivija MedneAli-Reza MoslemiAnna SarkozyMary M ReillyFrancesco MuntoniFrancisca MillanColleen C MurareskuAnna C NeedAndrea H NemethSarah B NeuhausFiona NorwoodMarie O'DonnellMary O’DriscollJulia RankinSabrina W YumZarazuela Zolkipli-CunninghamIsabell BrusiusGilbert WunderlichJohn C AmbrosePrabhu ArumugamEmma L BapleMarta BledaFreya Boardman-PrettyJeanne M BoissiereChristopher R BoustredHelen BrittainMark J CaulfieldGeorgia C ChanClare E H CraigLouise C DaughertyAnna de BurcaAndrew DevereauRebecca E FoulgerTom FowlerPedro Furió-TaríJoanne M HackettDina HalaiAngela HamblinShirley HendersonJames E HolmanTim J P HubbardKristina ibáñezRob JacksonLouise J JonesDalia KasperaviciuteMelis KayikciAthanasios KousathanasLea LahnsteinKay LawsonSarah E A LeighIvonne U S LeongJavier F LopezFiona Maleady-CroweJoanne MasonEllen M McDonaghLoukas MoutsianasMichael MuellerNirupa MurugaesuPeter O’DonovanChris A OdhamsChristine PatchMariana Buongermino PereiraDaniel Perez-GilDimitris PolychronopoulosJohn PullingerTahrima RahimAugusto RendonPablo Riesgo-FerreiroTim RogersMina RytenKevin SavageKushmita SawantRichard H ScottAfshan SiddiqAlexander SieghartDamian SmedleyKatherine R SmithSamuel C SmithAlona SosinskyWilliam SpoonerHelen E StevensAlexander StuckeyRazvan SultanaMélanie TanguyEllen R A ThomasSimon R ThompsonCarolyn TregidgoEmma WalshSarah A WattersMatthew J WellandEleanor WilliamsKatarzyna WitkowskaSuzanne M WoodMagdalena ZarowieckiMert KarakayaBrunhilde WirthKhalid A FakhroHoma TajsharghiCarsten G BönnemannJenny C TaylorHenry Houlden
Brain
Brain, 144, 2, pp. 584-600
Academic Journal
Kristina IbañezJames PolkeR Tanner HagelstromEgor DolzhenkoDorota PaskoEllen Rachel Amy ThomasLouise C DaughertyDalia KasperaviciuteKatherine R SmithEllen M McDonaghAntonio RuedaDimitris PolychronopoulosGeorgia ChanHeather Angus-LeppanKailash P BhatiaJames E DavisonRichard FestensteinPietro FrattaPaola GiuntiRobin HowardLaxmi VenkataMatilde LauráMeriel McEntagartLara MenziesHuw MorrisMary M ReillyRobert RobinsonElisabeth RosserFrancesca FaravelliAnette SchragJonathan M SchottThomas T WarnerNicholas W WoodDavid BournKelly EggletonRobyn LabrumPhilip TwissStephen AbbsLiana SantosGhareesa AlmheiriIsabella SheikhJana VandrovcovaChristine PatchAna Lisa Taylor TavaresZerin HyderAnna NeedHelen BrittainEmma BapleLoukas MoutsianasViraj DeshpandeDenise L PerrySubramanian S. AjayAditi ChawlaVani RajanKathryn OprychPatrick F ChinneryAngela DouglasGill WilsonSian EllardI Karen TempleAndrew MumfordDom McMullanKikkeri NareshFrances A FlinterJenny C TaylorLynn GreenhalghWilliam NewmanPaul BrennanJohn A SayerF Lucy RaymondLyn S ChittyZandra C DeansSue HillTom FowlerRichard H ScottJohn HardyHenry HouldenAugusto RendonMark J CaulfieldMichael A EberleRyan J TaftArianna TucciJohn C. AmbrosePrabhu ArumugamMarta BledaFreya Boardman-PrettyJeanne M. BoissiereChristopher R. BoustredClare E.H. CraigAnna de BurcaAndrew DevereauGreg ElgarRebecca E. FoulgerPedro Furió-TaríJoanne HackettDina HalaiAngela HamblinShirley HendersonJames HolmanTim J.P. HubbardRob JacksonLouise J. JonesMelis KayikciLea LahnsteinKay LawsonSarah E.A. LeighIvonne U.S. LeongJavier F. LopezFiona Maleady-CroweJoanne MasonMichael MuellerNirupa MurugaesuChris A. OdhamsDaniel Perez-GilJohn PullingerTahrima RahimPablo Riesgo-FerreiroTim RogersMina RytenKevin SavageKushmita SawantAfshan SiddiqAlexander SieghartDamian SmedleyAlona SosinskyWilliam SpoonerHelen E. StevensAlexander StuckeyRazvan SultanaSimon R. ThompsonCarolyn TregidgoEmma WalshSarah A. WattersMatthew J. WellandEleanor WilliamsKatarzyna WitkowskaSuzanne M. WoodMagdalena Zarowiecki
Lancet Neurol
WGS for Neurological Diseases Group 2022, ' Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK : a retrospective diagnostic accuracy and prospective clinical validation study ', The Lancet. Neurology, vol. 21, no. 3, pp. 234-245 . https://doi.org/10.1016/S1474-4422(21)00462-2
Academic Journal
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NPJ Genom Med
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-17 (2022)
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