학술논문


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'학술논문' 에서 검색결과 751건 | 목록 1~20
Academic Journal
Dis Model Mech
Disease Models & Mechanisms, Vol 18, Iss 4 (2025)
Jafree, D J, Perera, C, Ball, M, Tolomeo, D, Pomeranz, G, Wilson, L, Davis, B, Mason, W J, Funk, E M, Kolatsi-Joannou, M, Polschi, R, Malik, S, Stewart, B J, Price, K L, Mitchell, H, Motallebzadeh, R, Muto, Y, Lees, R, Needham, S, Moulding, D, Chandler, J C, Nandanwar, S, Walsh, C L, Winyard, P J D, Scambler, P J, Hägerling, R, Clatworthy, M R, Humphreys, B D, Lythgoe, M F, Walker-Samuel, S, Woolf, A S & Long, D A 2025, 'Microvascular aberrations found in human polycystic kidneys are an early feature in a Pkd1 mutant mouse model', Disease Models and Mechanisms, vol. 18, no. 4, dmm052024. https://doi.org/10.1242/dmm.052024
Woolf, A S & al, E 2025, 'Microvascular aberrations found in human polycystic kidneys are an early feature in a Pkd1 mutant mouse model', DMM Disease Models and Mechanisms, vol. 18, no. 4, dmm052024. https://doi.org/10.1242/dmm.052024
Disease Models & Mechanisms
Academic Journal
Kidney Int
Asfahani, R I, Tahoun, M M, Miller-Hodges, E V, Bellerby, J, Virasami, A K, Sampson, R D, Moulding, D, Sebire, N J, Hohenstein, P, Scambler, P J & Waters, A M 2018, ' Activation of podocyte Notch mediates early Wt1 glomerulopathy ', Kidney International, vol. 93, no. 4, pp. 903-920 . https://doi.org/10.1016/j.kint.2017.11.014
Academic Journal
Grozeva DCarss KSpasic Boskovic OTejada MIGecz JShaw MCorbett MHaan EThompson EFriend KHussain ZHackett AField MRenieri AStevenson RSchwartz CFloyd JABentham JCosgrove CKeavney BBhattacharya SItalian X. linked Mental Retardation ProjectUK10K ConsortiumGOLD ConsortiumHurles MRaymond F.L. Strangoni GD' Avanzo GCarnevale FRESTA, NicolettaScarano GMazzanti LBorgatti RParini BMarchina EStrisciuglio PCavalli PBigoni SZammarchi EFaravelli FDi Rocco MLerone MGaslini GD'Alessandro ESelicorni APantaleoni CBedeschi FRinaldi MMTenconi RVerri ABattaglia AGuerrini RPriolo MGaravelli LNeri GPergola MGalasso CZelante LFerrero GMemo LTurolla LHladnik URomano CDurbin RBarrett JBarroso IDavey Smith GFarooqi ISO' Rahilly SPalotie ASoranzo NSpector TZeggini EBeales PBlackwood DBolton PBreen GChatterjee KCollier DFitzpatrick DGallagher LGeschwind DGurling HHumphries SMcGuffin PMonaco AMuntoni FOwen MRaymond LSavage DScambler PSemple RSkuse DSt Clair DTimpson NVan der Aa NAhmed AAjith VKArcher HArmstrong RBalasubramanian MBaralle DBarnicoat ABennett CBernhard BBianciardi LBitner Glindzicz MBlair Evan Bokhoven Hvan Bon BBradley LBrady ABrewer CBrunner HBurke MCaliebe ACanham NCastle BChandler KClarke AClayton Smith JClowes VCole TCollins ACook JCoughlin CCowe ACox HCrow YDabir TDavies SDeshpande DDiderich KEDolling CDonnai DDonnelly DDooijes DDupont JEllis IVan Esch HDe Filippis RFirth HFisher RFoulds NFranco BFry AFryer AFuchs GGarcia SGardiner CGibbons RGoodship JGreen AGreenhalgh LGuanti GGuilbert PHalest MVHaroon MHarvey JHenderson AHennekam RHolden SHolder SHomfray THurst JIonnides AJarvis JJohnson DSJones EJones LJongmans MJosifova DJoss SKenny JKerr BKingston HKini UKivuva EKooy FKraus AKurian MLachlan KLam WLees MLindsay SLongman CLynch SMagee AVan Maldergem LMale AMari FMcConnell VMcGeb AMcKee SMcKeown CMcWilliam CMedeira AMehta SMetcalfe KMohammed SMorton JMurday VNewbury Ecob RNik Zainal' SNorman APark SMParker MJPrescott KPrice SProcter AQuarrell ORankin JRea GReardon WRobert LRosser ESandford RScott RScurr ISenger GSharif SShaw AShaw CShears DSmithson SSplitt MStewart AStewart FStewart HSuri MSweeney ETaffinder STanteles GTemple KThompson JTocher JTomkins STurner CTurnpenny PVanderstein AVasudevan PVillard LVisser LWakeling EWeber AWilliams DWilson LWoods GWright MWritzl KYates L.
Hum Mutat
Grozeva, D, Carss, K, Spasic-Boskovic, O, Tejada, M-I, Gecz, J, Shaw, M, Corbett, M, Haan, E, Thompson, E, Friend, K, Hussain, Z, Hackett, A, Field, M, Renieri, A, Stevenson, R, Schwartz, C, Floyd, J A B, Bentham, J, Cosgrove, C, Keavney, B, Bhattacharya, S, Hurles, M & Raymond, F L 2015, 'Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.', Human Mutation, vol. 36, no. 12. https://doi.org/10.1002/humu.22901
Academic Journal
Klaudia WalterJosine L. MinJie HuangLucy CrooksYasin MemariShane McCarthyJohn R. B. PerryChangJiang XuMarta FutemaDaniel LawsonValentina IotchkovaStephan SchiffelsAudrey E. HendricksPetr DanecekRui LiJames FloydLouise V. WainInês BarrosoSteve E. HumphriesMatthew E. HurlesEleftheria ZegginiJeffrey C. BarrettVincent PlagnolJ. Brent RichardsCelia M. T. GreenwoodNicholas J. TimpsonRichard DurbinNicole SoranzoSenduran BalaPeter ClaphamGuy CoatesTony CoxAllan DalyYuanping DuSarah EdkinsPeter EllisPaul FlicekXiaosen GuoXueqin GuoLiren HuangDavid K. JacksonChris JoyceThomas KeaneAnja Kolb-KokocinskiCordelia LangfordYingrui LiJieqin LiangHong LinRyan LiuJohn MaslenDawn MuddymanMichael A. QuailJim StalkerJianping SunJing TianGuangbiao WangJun WangYu WangKim WongPingbo ZhangEwan BirneyChris BoustredLu ChenGail ClementMassimiliano CoccaGeorge Davey SmithIan N. M. DayAaron Day-WilliamsThomas DownIan DunhamDavid M. EvansTom R. GauntMatthias GeihsDeborah HartBryan HowieTim HubbardPirro HysiYalda JamshidiKonrad J. KarczewskiJohn P. KempGenevieve LachanceMonkol LekMargarida LopesDaniel G. MacArthurJonathan MarchiniMassimo ManginoIain MathiesonSarah MetrustryAlireza MoayyeriKate NorthstoneKalliope PanoutsopoulouLavinia PaternosterLydia QuayeSusan RingGraham R. S. RitchieHashem A. ShihabSo-Youn ShinKerrin S. SmallMaría Soler ArtigasLorraine SouthamTimothy D. SpectorBeate St PourcainGabriela SurdulescuIoanna TachmazidouMartin D. TobinAna M. ValdesPeter M. VisscherKirsten WardScott G. WilsonJian YangFeng ZhangHou-Feng ZhengRichard AnneyMuhammad AyubDouglas BlackwoodPatrick F. BoltonGerome BreenDavid A. CollierNick CraddockSarah CurranDavid CurtisLouise GallagherDaniel GeschwindHugh GurlingPeter HolmansIrene LeeJouko LönnqvistPeter McGuffinAndrew M. McIntoshAndrew G. McKechanieAndrew McQuillinJames MorrisMichael C. O'DonovanMichael J. OwenAarno PalotieJeremy R. ParrTiina PaunioOlli PietilainenKarola RehnströmSally I. SharpDavid SkuseDavid St ClairJaana SuvisaariJames T. R. WaltersHywel J. WilliamsElena BochukovaRebecca BoundsAnna DominiczakI. Sadaf FarooqiJulia KeoghGaëlle MarenneAndrew MorrisStephen O'RahillyDavid J. PorteousBlair H. SmithEleanor WheelerSaeed Al TurkiCarl A. AndersonDinu AntonyPhil BealesJamie BenthamShoumo BhattacharyaMattia CalissanoKeren CarssKrishna ChatterjeeSebahattin CirakCatherine CosgroveDavid R. FitzpatrickA. Reghan FoleyChristopher S. FranklinDetelina GrozevaHannah M. MitchisonFrancesco MuntoniAlexandros OnoufriadisVictoria ParkerFelicity PayneF. Lucy RaymondNicola RobertsDavid B. SavagePeter ScamblerMiriam SchmidtsNadia SchoenmakersRobert K. SempleEva SerraOlivera Spasic-BoskovicElizabeth StevensMargriet van KogelenbergParthiban VijayarangakannanKathleen A. WilliamsonCrispian WilsonTamieka WhyteAntonio CiampiKarim OualkachaMartin BobrowHeather GriffinJane KayeKaren KennedyAlastair KentCarol SmeeRuth CharltonRosemary EkongFarrah KhawajaLuis R. LopesNicola MigoneStewart J. PayneRebecca C. PollittSue PoveyCheryl K. RidoutRachel L. RobinsonRichard H. ScottAdam ShawPetros SyrrisRohan TaylorAnthony M. VandersteenAntoinette AmuzuJuan Pablo CasasJohn C. ChambersGeorge DedoussisGiovanni GambaroPaolo GaspariniAaron IsaacsJon JohnsonMarcus E. KleberJaspal S. KoonerClaudia LangenbergJian'an LuanGiovanni MalerbaWinfried MärzAngela MatchanRichard MorrisBørge G. NordestgaardMarianne BennRobert A. ScottDaniela TonioloMichela TragliaAnne Tybjaerg-HansenCornelia M. van DuijnElisabeth M. van LeeuwenAnette VarboPeter WhincupGianluigi ZazaWeihua Zhang
Nature
Walter, K, Min, J L, Huang, J, Crooks, L, Memari, Y, McCarthy, S, Perry, J R B, Xu, C, Futema, M, Lawson, D J, Lotchkova, V, Schiffels, S, Hendricks, A, Danecek, P, Li, R, Floyd, J A B, Wain, L V, Barroso, I, Humphries, S E, Hurles, M E, Zeggini, E, Barrett, J C, Plagnol, V, Richards, J B, Greenwood, C M T, Timpson, N, Durbin, R, Soranzo, N, Davey Smith, G, Kemp, J, Northstone, K, Paternoster, L, Shihab, H, Shin, S-Y, St Pourcain, B & Gaunt, T & Ring, S 2015, 'The UK10K project identifies rare variants in health and disease', Nature, vol. 526, no. 7571, pp. 82-90. https://doi.org/10.1038/nature14962
Walter, K, Min, J L, Huang, J, Crooks, L, Memari, Y, McCarthy, S, Perry, J R B, Xu, C, Futema, M, Lawson, D, Iotchkova, V, Schiffels, S, Hendricks, A E, Danecek, P, Li, R, Floyd, J, Wain, L V, Barroso, I, Humphries, S E, Hurles, M E, Zeggini, E, Barrett, J C, Plagnol, V, Richards, J B, Greenwood, C M T, Timpson, N J, Durbin, R, Soranzo, N, Bala, S, Clapham, P, Coates, G, Cox, T, Daly, A, Danecek, P, Du, Y, Durbin, R, Edkins, S, Ellis, P, Flicek, P, Guo, X, Guo, X, Huang, L, Jackson, D K, Joyce, C, Keane, T, Kolb-Kokocinski, A, Langford, C, Li, Y, Liang, J, Lin, H, Liu, R, Maslen, J, McCarthy, S, Muddyman, D, Quail, M A, Stalker, J, Sun, J, Tian, J, Wang, G, Wang, J, Wang, Y, Wong, K, Zhang, P, Barroso, I, Birney, E, Boustred, C, Chen, L, Clement, G, Cocca, M, Danecek, P, Smith, G D, Day, I N M, Day-Williams, A, Down, T, Dunham, I, Durbin, R, Evans, D M, Gaunt, T R, Geihs, M, Greenwood, C M T, Hart, D, Hendricks, A E, Howie, B, Huang, J, Hubbard, T, Hysi, P, Iotchkova, V, Jamshidi, Y, Karczewski, K J, Kemp, J P, Lachance, G, Lawson, D, Lek, M, Lopes, M, MacArthur, D G, Marchini, J, Mangino, M, Mathieson, I, McCarthy, S, Memari, Y, Metrustry, S, Min, J L, Moayyeri, A, Muddyman, D, Northstone, K, Panoutsopoulou, K, Paternoster, L, Perry, J R B, Quaye, L, Richards, J B, Ring, S, Ritchie, G R S, Schiffels, S, Shihab, H A, Shin, S-Y, Small, K S, Artigas, M S, Soranzo, N, Southam, L, Spector, T D, St Pourcain, B, Surdulescu, G, Tachmazidou, I, Timpson, N J, Tobin, M D, Valdes, A M, Visscher, P M, Wain, L V, Walter, K, Ward, K, Wilson, S G, Wong, K, Yang, J, Zeggini, E, Zhang, F, Zheng, H-F, Anney, R, Ayub, M, Barrett, J C, Blackwood, D, Bolton, P F, Breen, G, Collier, D A, Craddock, N, Crooks, L, Curran, S, Curtis, D, Durbin, R, Gallagher, L, Geschwind, D, Gurling, H, Holmans, P, Lee, I, Lonnqvist, J, McCarthy, S, McGuffin, P, McIntosh, A M, McKechanie, A G, McQuillin, A, Morris, J, Muddyman, D, O'Donovan, M C, Owen, M J, Palotie, A, Parr, J R, Paunio, T, Pietilainen, O, Rehnstrom, K, Sharp, S I, Skuse, D, St Clair, D, Suvisaari, J, Walters, J T R, Williams, H J, Barroso, I, Bochukova, E, Bounds, R, Dominiczak, A, Durbin, R, Farooqi, I S, Hendricks, A E, Keogh, J, Marenne, G L, McCarthy, S, Morris, A, Muddyman, D, O'Rahilly, S, Porteous, D J, Smith, B H, Tachmazidou, I, Wheeler, E, Zeggini, E, Al Turki, S, Anderson, C A, Antony, D, Barroso, I, Beales, P, Bentham, J, Bhattacharya, S, Calissano, M, Carss, K, Chatterjee, K, Cirak, S, Cosgrove, C, Durbin, R, Fitzpatrick, D R, Floyd, J, Foley, A R, Franklin, C S, Futema, M, Grozeva, D, Humphries, S E, Hurles, M E, McCarthy, S, Mitchison, H M, Muddyman, D, Muntoni, F, O'Rahilly, S, Onoufriadis, A, Parker, V, Payne, F, Plagnol, V, Raymond, F L, Roberts, N, Savage, D B, Scambler, P, Schmidts, M, Schoenmakers, N, Semple, R K, Serra, E, Spasic-Boskovic, O, Stevens, E, van Kogelenberg, M, Vijayarangakannan, P, Walter, K, Williamson, K A, Wilson, C, Whyte, T, Ciampi, A, Greenwood, C M T, Hendricks, A E, Li, R, Metrustry, S, Oualkacha, K, Tachmazidou, I, Xu, C, Zeggini, E, Bobrow, M, Bolton, P F, Durbin, R, Fitzpatrick, D R, Griffin, H, Hurles, M E, Kaye, J, Kennedy, K, Kent, A, Muddyman, D, Muntoni, F, Raymond, F L, Semple, R K, Smee, C, Spector, T D, Timpson, N J, Charlton, R, Ekong, R, Futema, M, Humphries, S E, Khawaja, F, Lopes, L R, Migone, N, Payne, S J, Plagnol, V, Pollitt, R C, Povey, S, Ridout, C K, Robinson, R L, Scott, R H, Shaw, A, Syrris, P, Taylor, R, Vandersteen, A M, Barrett, J C, Barroso, I, Smith, G D, Durbin, R, Farooqi, I S, Fitzpatrick, D R, Hurles, M E, Kaye, J, Kennedy, K, Langford, C, McCarthy, S, Muddyman, D, Owen, M J, Palotie, A, Richards, J B, Soranzo, N, Spector, T D, Stalker, J, Timpson, N J, Zeggini, E, Amuzu, A, Casas, J P, Chambers, J C, Cocca, M, Dedoussis, G, Gambaro, G, Gasparini, P, Gaunt, T R, Huang, J, Iotchkova, V, Isaacs, A, Johnson, J, Kleber, M E, Kooner, J S, Langenberg, C, Luan, J, Malerba, G, Maerz, W, Matchan, A, Min, J L, Morris, R, Nordestgaard, B, Ring, S, Scott, R A, Soranzo, N, Southam, L, Timpson, N J, Toniolo, D, Traglia, M, Tybjærg-Hansen, A, van Duijn, C M, van Leeuwen, E M, Varbo, A, Whincup, P, Zaza, G, Zeggini, E, Zhang, W & Benn, M 2015, ' The UK10K project identifies rare variants in health and disease ', Nature, vol. 526, no. 7571, pp. 82-90 . https://doi.org/10.1038/nature14962
Perry, J R B, Brent Richards, J, Clement, G, Hart, D, Hysi, P, Metrustry, S, Hubbard, T, Lachance, G & Small, K S & Breen, G 2015, ' The UK10K project identifies rare variants in health and disease ', NATURE, vol. 526, pp. 82-90 . https://doi.org/10.1038/nature14962
2015, ' The UK10K project identifies rare variants in health and disease ', Nature, vol. 526, no. 7571, pp. 82-90 . https://doi.org/10.1038/nature14962
Academic Journal
Halbritter, J, Bizet, A A, Schmidts, M, Porath, J D, Braun, D A, Gee, H Y, McInerney-Leo, A M, Krug, P, Filhol, E, Davis, E E, Airik, R, Czarnecki, P G, Lehman, A M, Trnka, P, Nitschké, P, Bole-Feysot, C, Schueler, M, Knebelmann, B, Burtey, S, Szabó, A J, Tory, K, Leo, P J, Gardiner, B, McKenzie, F A, Zankl, A, Brown, M A, Hartley, J L, Maher, E R, Li, C, Leroux, M R, Scambler, P J, Zhan, S H, Jones, S J, Kayserili, H, Tuysuz, B, Moorani, K N, Constantinescu, A, Krantz, I D, Kaplan, B S, Shah, J V, Hurd, T W, Doherty, D, Katsanis, N, Duncan, E L, Otto, E A, Beales, P L, Mitchison, H M & Saunier, S & Hildebrandt, F 2013, ' Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans ', American Journal of Human Genetics, vol. 93, no. 5, pp. 915-25 . https://doi.org/10.1016/j.ajhg.2013.09.012
American Journal of Human Genetics
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[검색어] Scambler, R.
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