학술논문


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발행년
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(예 : 2010-2015)
전자자료 공정이용 안내

우리 대학 도서관에서 구독·제공하는 모든 전자자료(데이터베이스, 전자저널, 전자책 등)는 국내외 저작권법과 출판사와의 라이선스 계약에 따라 엄격하게 보호를 받고 있습니다.
전자자료의 비정상적 이용은 출판사로부터의 경고, 서비스 차단, 손해배상 청구 등 학교 전체에 심각한 불이익을 초래할 수 있으므로, 아래의 공정이용 지침을 반드시 준수해 주시기 바랍니다.

공정이용 지침
  • 전자자료는 개인의 학습·교육·연구 목적의 비영리적 사용에 한하여 이용할 수 있습니다.
  • 합리적인 수준의 다운로드 및 출력만 허용됩니다. (일반적으로 동일 PC에서 동일 출판사의 논문을 1일 30건 이하 다운로드할 것을 권장하며, 출판사별 기준에 따라 다를 수 있습니다.)
  • 출판사에서 제공한 논문의 URL을 수업 관련 웹사이트에 게재할 수 있으나, 출판사 원문 파일 자체를 복제·배포해서는 안 됩니다.
  • 본인의 ID/PW를 타인에게 제공하지 말고, 도용되지 않도록 철저히 관리해 주시기 바랍니다.
불공정 이용 사례
  • 전자적·기계적 수단(다운로딩 프로그램, 웹 크롤러, 로봇, 매크로, RPA 등)을 이용한 대량 다운로드
  • 동일 컴퓨터 또는 동일 IP에서 단시간 내 다수의 원문을 집중적으로 다운로드하거나, 전권(whole issue) 다운로드
  • 저장·출력한 자료를 타인에게 배포하거나 개인 블로그·웹하드 등에 업로드
  • 상업적·영리적 목적으로 자료를 전송·복제·활용
  • ID/PW를 타인에게 양도하거나 타인 계정을 도용하여 이용
  • EndNote, Mendeley 등 서지관리 프로그램의 Find Full Text 기능을 이용한 대량 다운로드
  • 출판사 콘텐츠를 생성형 AI 시스템에서 활용하는 행위(업로드, 개발, 학습, 프로그래밍, 개선 또는 강화 등)
위반 시 제재
  • 출판사에 의한 해당 IP 또는 기관 전체 접속 차단
  • 출판사 배상 요구 시 위반자 개인이 배상 책임 부담
'학술논문' 에서 검색결과 15건 | 목록 1~20
Academic Journal
Emilia M. SwietlikDaniel GreeneNa ZhuKaryn MegyMarcella CoglianoSmitha RajaramDivya PandyaTobias TillyKatie A. LutzCarrie C.L. WelchMichael W. PauciuloLaura SouthgateJennifer M. MartinCarmen M. TreacyChristopher J. PenkettJonathan C. StephensHarm J. BogaardColin ChurchGerry CoghlanAnna W. ColemanRobin CondliffeChristina A. EichstaedtMélanie EyriesHenning GallStefano GhioBarbara GirerdEkkehard GrünigSimon HoldenLuke HowardMarc HumbertDavid G. KielyGabor KovacsJim LordanRajiv D. MachadoRobert V. MacKenzie RossColm McCabeShahin MoledinaDavid MontaniHorst OlschewskiJoanna Pepke-ZabaLaura PriceChristopher J. RhodesWerner SeegerFlorent SoubrierJay SuntharalingamMark R. ToshnerAnton Vonk NoordegraafJohn WhartonJames M. WildStephen John WortAllan LawrieMartin R. WilkinsRichard C. TrembathYufeng ShenWendy K. ChungAndrew J. SwiftWilliam C. NicholsNicholas W. MorrellStefan GräfStephen AbbsLara AbulhoulJulian AdlardMunaza AhmedTimothy J. AitmanHana AlachkarDavid J. AllsupPhilip AncliffRichard AntrobusRuth ArmstrongGavin ArnoSofie AshfordWilliam J. AstleAnthony AttwoodPaul AuroraChristian BabbsChiara BacchelliTamam BakchoulSiddharth BankaTadbir BarianaJulian BarwellJoana BatistaHelen E. BaxendalePhil L. BealesDavid L. BennettAgnieszka BierzynskaTina BissMaria A.K. Bitner-GlindziczGraeme C. BlackMarta BledaIulia BlesneacDetlef BockenhauerSara BoyceJohn R. BradleyGerome BreenPaul BrennanCarole BrewerMatthew BrownAndrew C. BrowningMichael J. BrowningRachel J. BuchanMatthew S. BucklandTeofila BueserCarmen Bugarin DizJohn BurnSiobhan O. BurnsOliver S. BurrenNigel BurrowsCarolyn CampbellGerald Carr-WhiteKeren CarssRuth CaseyMark J. CaulfieldJenny ChambersJohn ChambersMelanie M.Y. ChanFloria ChengPatrick F. ChinneryManali ChitreMartin T. ChristianJill Clayton-SmithMaureen ClearyNaomi Clements BrodElizabeth ColbyTrevor R.P. ColeJanine CollinsPeter W. CollinsCecilia J. ComptonH. Terence CookStuart CookNichola CooperPaul A. CorrisNicola S. CurryMatthew J. DanielsMehul DattaniLouise C. DaughertyJohn DavisAnthony De SoyzaSri V.V. DeeviTimothy DentCharu DeshpandeEleanor F. DewhurstPeter H. DixonSofia DouzgouKate DownesAnna M. DrazykElizabeth DreweDaniel DuarteTina DuttJ. David M. EdgarKaren EdwardsWilliam EgnerMelanie N. EkaniPerry ElliottWendy N. ErberMarie ErwoodMaria C. EstiuDafydd Gareth EvansGillian EvansTamara EveringtonHiva FassihiRemi FavierDebra FletcherFrances A. FlinterR. Andres FlotoTom FowlerJames FoxAmy J. FraryCourtney E. FrenchKathleen FresonMattia FrontiniAbigail FurnellDaniel P. GaleVijeya GanesanMichael GattensHossein-Ardeschir GhofraniJ. Simon R. GibbsKate GibsonKimberly C. GilmourNicholas S. GleadallSarah GoddardKeith GomezPavels GordinsDavid GosalJodie GrahamLuigi GrassiLynn GreenhalghAndreas GreinacherPaolo GreselePhilip GriffithsSofia GrigoriadouDetelina GrozevaMark GurnellScott HackettCharaka HadinnapolaRosie HagueWilliam M. HagueMatthias HaimelMatthew HallHelen L. HansonEshika HaqueKirsty HarknessAndrew R. HarperClaire L. HarrisDaniel HartAhamad HassanGrant HaymanAlex HendersonArchana HerwadkarJonathan HoffmanRita HorvathHenry HouldenArjan C. HouwelingFengyuan HuGavin HudsonAarnoud P. HuissoonMatthew HurlesMelita IrvingLouise IzattRoger JamesSally A. JohnsonStephen JollesJennifer JolleyDragana JosifovaNeringa JurkuteMary A. KasanickiHanadi KazkazRashid KazmiPeter KelleherAnne M KellyWilf KelsallCarly KempsterNathalie KingstonNils KoellingMyrto KostadimaAnia KoziellRoman KreuzhuberTaco W. KuijpersAjith KumarDinakantha KumararatneManju A. KurianMichael A. LaffanFiona LallooMichele LambertHana Lango AllenD. Mark LaytonClaire LentaigneTracy LesterAdam P. LevineRachel LingerHilary LonghurstLorena E. LorenzoEleni LoukaPaul A. LyonsBella MadanEamonn R. MaherJesmeen MaimarisSamantha MalkaSarah ManglesRutendo MapetaKevin J. MarchbankStephen MarksHugh S. MarkusHanns-Ulrich MarschallAndrew MarshallMary MathiasEmma MatthewsHeather MaxwellPaul McAlindenMark I. McCarthyHarriet McKinneyStuart MeachamAdam J. MeadSarju G. MehtaMichel MichaelidesCarolyn MillarShehla N. MohammedAnthony T. MooreMonika MozereKeith W. MuirAndrew D. MumfordAndrea H. NemethWilliam G. NewmanMichael NewnhamSadia NooraniPaquita NurdenJennifer O’SullivanSamya ObajiChris OdhamsSteven OkoliAndrea OlschewskiKai Ren OngS. Helen OramElizabeth OrmondroydWillem H. OuwehandClaire PallesSofia PapadiaSoo-Mi ParkDavid ParrySmita PatelJoan PatersonAndrew PeacockSimon H. PearceKathelijne PeerlinckRomina PetersenClarissa PilkingtonKenneth E.S. PooleBethan PsailaAngela PyleRichard QuintonShamima RahmanAnupama RaoF. Lucy RaymondPaula J. Rayner-MatthewsAugusto RendonTara RentonAndrew S.C. RiceAlex RichterLeema RobertIrene RobertsSarah J. RoseRobert Ross-RussellCatherine RoughleyNoemi B.A. RoyDeborah M. RuddyOmid Sadeghi-AlavijehMoin A. SaleemNilesh SamaniCrina SamarghiteanAlba Sanchis-JuanRavishankar B. SargurRobert N. SarkanySimon SatchellSinisa SavicGenevieve SayerJohn A. SayerLaura ScelsiAndrew M. SchaeferSol SchulmanRichard ScottMarie ScullyClaire SearleArjune SenW.A. Carrock SewellDenis SeyresNeil ShahOlga ShamardinaSusan E. ShapiroAdam C. ShawKeith SibsonLucy SideIlenia SimeoniMichael A. SimpsonMatthew C. SimsSuthesh SivapalaratnamDamian SmedleyKatherine R. SmithKenneth G.C. SmithKatie SnapeNicole SoranzoOlivera Spasic-BoskovicSimon StainesEmily StaplesHannah StarkKathleen E. StirrupsAlex StuckeyPetros SyrrisR. Campbell TaitKate TalksRhea Y.Y. TanJenny C. TaylorJohn M. TaylorJames E. ThaventhiranAndreas C. ThemistocleousDavid ThomasEllen ThomasMoira J. ThomasPatrick ThomasKate ThomsonAdrian J. ThrasherChantal ThysMarc TischkowitzCatherine TittertonCheng-Hock TohIan P. TomlinsonMatthew TraylorPaul TreadawaySalih TunaErnest TurroPhilip TwissTom ValeChris Van GeetNatalie van ZuydamAnthony M VandersteenMarta Vazquez-LopezJulie von ZiegenweidtAnnette WagnerQuinten WaisfiszNeil WalkerSuellen M. WalkerJames S. WareHugh WatkinsChristopher WattAndrew R. WebsterLucy WedderburnWei WeiSteven B. WelchJulie WesselsSarah K. WestburyJohn-Paul WestwoodDeborah WhitehornJames WhitworthAndrew O.M. WilkieCatherine WilliamsonBrian T. WilsonEdwin K.S. WongNicholas WoodYvette WoodChristopher Geoffrey WoodsEmma R. WoodwardAusten WorthMichael WrightKatherine YatesPatrick F.K. YongTimothy YoungPing YuPatrick Yu-Wai-ManEliska ZlamalovaRussel HirschR. James WhiteMarc SimonDavid BadeschErika RosenzweigCharles BurgerMurali ChakinalaThenappan ThenappanGreg ElliottRobert SimmsHarrison FarberRobert FrantzJean ElwingNicholas HillDunbar IvyJames KlingerSteven NathanRonald OudizIvan RobbinsRobert SchilzTerry FortinJeffrey WiltDelphine YungEric AustinFerhaan AhmadNitin BhattTim LahmAdaani FrostZeenat SafdarZia RehmanRobert WalterFernando TorresSahil BakshiStephen ArcherRahul ArgulaChristopher BarnettRaymond BenzaAnkit DesaiVeeranna Maddipati
Circ Genom Precis Med
morrell 2021, 'Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension', Circulation. Genomic and precision medicine, vol. 14, no. 1, e003155. https://doi.org/10.1161/CIRCGEN.120.003155
Academic Journal
Ernest TurroWilliam J. AstleKaryn MegyStefan GräfDaniel GreeneOlga ShamardinaHana Lango AllenAlba Sanchis-JuanMattia FrontiniChantal ThysJonathan StephensRutendo MapetaOliver S. BurrenKate DownesMatthias HaimelSalih TunaSri V. V. DeeviTimothy J. AitmanDavid L. BennettPaul CallejaKeren CarssMark J. CaulfieldPatrick F. ChinneryPeter H. DixonDaniel P. GaleRoger JamesAnia KoziellMichael A. LaffanAdam P. LevineEamonn R. MaherHugh S. MarkusJoannella MoralesNicholas W. MorrellAndrew D. MumfordElizabeth OrmondroydStuart RankinAugusto RendonSylvia RichardsonIrene RobertsNoemi B. A. RoyMoin A. SaleemKenneth G. C. SmithHannah StarkRhea Y. Y. TanAndreas C. ThemistocleousAdrian J. ThrasherHugh WatkinsAndrew R. WebsterMartin R. WilkinsCatherine WilliamsonJames WhitworthSean HumphrayDavid R. BentleyStephen AbbsLara AbulhoulJulian AdlardMunaza AhmedHana AlachkarDavid J. AllsupJeff Almeida-KingPhilip AncliffRichard AntrobusRuth ArmstrongGavin ArnoSofie AshfordAnthony AttwoodPaul AuroraChristian BabbsChiara BacchelliTamam BakchoulSiddharth BankaTadbir BarianaJulian BarwellJoana BatistaHelen E. BaxendalePhil L. BealesAgnieszka BierzynskaTina BissMaria A. K. Bitner-GlindziczGraeme C. BlackMarta BledaIulia BlesneacDetlef BockenhauerHarm BogaardChristian J. BourneSara BoyceJohn R. BradleyEugene BraginGerome BreenPaul BrennanCarole BrewerMatthew BrownAndrew C. BrowningMichael J. BrowningRachel J. BuchanMatthew S. BucklandTeofila BueserCarmen Bugarin DizJohn BurnSiobhan O. BurnsNigel BurrowsCarolyn CampbellGerald Carr-WhiteRuth CaseyJenny ChambersJohn ChambersMelanie M. Y. ChanCalvin CheahFloria ChengManali ChitreMartin T. ChristianColin ChurchJill Clayton-SmithMaureen ClearyNaomi Clements BrodGerry CoghlanElizabeth ColbyTrevor R. P. ColeJanine CollinsPeter W. CollinsCamilla ColomboCecilia J. ComptonRobin CondliffeStuart CookH. Terence CookNichola CooperPaul A. CorrisAbigail FurnellFiona CunninghamNicola S. CurryAntony J. CutlerMatthew J. DanielsMehul DattaniLouise C. DaughertyJohn DavisAnthony De SoyzaTimothy DentCharu DeshpandeEleanor F. DewhurstSofia DouzgouAnna M. DrazykElizabeth DreweDaniel DuarteTina DuttJ. David M. EdgarKaren EdwardsWilliam EgnerMelanie N. EkaniPerry ElliottWendy N. ErberMarie ErwoodMaria C. EstiuDafydd Gareth EvansGillian EvansTamara EveringtonMélanie EyriesHiva FassihiRemi FavierJack FindhammerDebra FletcherFrances A. FlinterR. Andres FlotoTom FowlerJames FoxAmy J. FraryCourtney E. FrenchKathleen FresonHenning GallVijeya GanesanMichael GattensClaire GeogheganTerence S. A. GerightyAli G. GharaviStefano GhioHossein-Ardeschir GhofraniJ. Simon R. GibbsKate GibsonKimberly C. GilmourBarbara GirerdNicholas S. GleadallSarah GoddardDavid B. GoldsteinKeith GomezPavels GordinsDavid GosalJodie GrahamLuigi GrassiLynn GreenhalghAndreas GreinacherPaolo GreselePhilip GriffithsSofia GrigoriadouRussell J. GrocockDetelina GrozevaMark GurnellScott HackettCharaka HadinnapolaWilliam M. HagueRosie HagueMatthew HallHelen L. HansonEshika HaqueKirsty HarknessAndrew R. HarperClaire L. HarrisDaniel HartAhamad HassanGrant HaymanAlex HendersonArchana HerwadkarJonathan HoffmanSimon HoldenRita HorvathHenry HouldenArjan C. HouwelingLuke S. HowardFengyuan HuGavin HudsonJoseph HughesAarnoud P. HuissoonMarc HumbertSarah HunterMatthew HurlesMelita IrvingLouise IzattSally A. JohnsonStephen JollesJennifer JolleyDragana JosifovaNeringa JurkuteTim KartenJohannes KartenMary A. KasanickiHanadi KazkazRashid KazmiPeter KelleherAnne M. KellyWilf KelsallCarly KempsterDavid G. KielyNathalie KingstonRobert KlimaNils KoellingMyrto KostadimaGabor KovacsRoman KreuzhuberTaco W. KuijpersAjith KumarDinakantha KumararatneManju A. KurianFiona LallooMichele LambertAllan LawrieD. Mark LaytonNick LenchClaire LentaigneTracy LesterRachel LingerHilary LonghurstLorena E. LorenzoEleni LoukaPaul A. LyonsRajiv D. MachadoRobert V. MacKenzie RossBella MadanJesmeen MaimarisSamantha MalkaSarah ManglesKevin J. MarchbankStephen MarksHanns-Ulrich MarschallAndrew MarshallJennifer MartinMary MathiasEmma MatthewsHeather MaxwellPaul McAlindenMark I. McCarthyHarriet McKinneyAoife McMahonStuart MeachamAdam J. MeadIgnacio Medina CastelloSarju G. MehtaMichel MichaelidesCarolyn MillarShehla N. MohammedShahin MoledinaDavid MontaniAnthony T. MooreMonika MozereKeith W. MuirAndrea H. NemethWilliam G. NewmanMichael NewnhamSadia NooraniPaquita NurdenJennifer O’SullivanSamya ObajiChris OdhamsSteven OkoliAndrea OlschewskiHorst OlschewskiKai Ren OngS. Helen OramWillem H. OuwehandClaire PallesSofia PapadiaSoo-Mi ParkDavid ParrySmita PatelJoan PatersonAndrew PeacockSimon H. PearceJohn PedenKathelijne PeerlinckChristopher J. PenkettJoanna Pepke-ZabaRomina PetersenClarissa PilkingtonKenneth E. S. PooleRadhika PrathalingamBethan PsailaAngela PyleRichard QuintonShamima RahmanAnupama RaoF. Lucy RaymondPaula J. Rayner-MatthewsChristine ReesTara RentonChristopher J. RhodesAndrew S. C. RiceAlex RichterLeema RobertAnthony RogersSarah J. RoseRobert Ross-RussellCatherine RoughleyDeborah M. RuddyOmid Sadeghi-AlavijehNilesh SamaniCrina SamarghiteanRavishankar B. SargurRobert N. SarkanySimon SatchellSinisa SavicJohn A. SayerGenevieve SayerLaura ScelsiAndrew M. SchaeferSol SchulmanRichard ScottMarie ScullyClaire SearleWerner SeegerArjune SenW. A. Carrock SewellDenis SeyresNeil ShahSusan E. ShapiroAdam C. ShawPatrick J. ShortKeith SibsonLucy SideIlenia SimeoniMichael A. SimpsonMatthew C. SimsSuthesh SivapalaratnamDamian SmedleyKatherine R. SmithKatie SnapeNicole SoranzoFlorent SoubrierLaura SouthgateOlivera Spasic-BoskovicSimon StainesEmily StaplesCharles StewardKathleen E. StirrupsAlex StuckeyJay SuntharalingamEmilia M. SwietlikPetros SyrrisR. Campbell TaitKate TalksKatie TateJohn M. TaylorJenny C. TaylorJames E. ThaventhiranEllen ThomasDavid ThomasMoira J. ThomasPatrick ThomasKate ThomsonGlen ThreadgoldTobias TillyMarc TischkowitzCatherine TittertonJohn A. ToddCheng-Hock TohBas TolhuisIan P. TomlinsonMark ToshnerMatthew TraylorCarmen TreacyPaul TreadawayRichard TrembathWojciech TurekPhilip TwissTom ValeChris Van GeetNatalie van ZuydamMaarten VandekuilenAnthony M. VandersteenMarta Vazquez-LopezJulie von ZiegenweidtAnton Vonk NoordegraafAnnette WagnerQuinten WaisfiszSuellen M. WalkerNeil WalkerKlaudia WalterJames S. WareChristopher WattLucy WedderburnWei WeiSteven B. WelchJulie WesselsSarah K. WestburyJohn-Paul WestwoodJohn WhartonDeborah WhitehornAndrew O. M. WilkieBrian T. WilsonEdwin K. S. WongNicholas WoodYvette WoodChristopher Geoffrey WoodsEmma R. WoodwardStephen J. WortAusten WorthMichael WrightKatherine YatesPatrick F. K. YongTimothy YoungPing YuPatrick Yu-Wai-ManEliska Zlamalova
Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina, O, Allen, H L, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, O S, Downes, K, Haimel, M, Tuna, S, Deevi, S V V, Aitman, T J, Bennett, D L, Calleja, P, Carss, K, Caulfield, M J, Chinnery, P F, Dixon, P H, Gale, D P, James, R, Koziell, A, Laffan, M A, Levine, A P, Maher, E R, Markus, H S, Morales, J, Morrell, N W, Mumford, A D, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Roberts, I, Roy, N B A, Saleem, M A, Smith, K G C, Stark, H, Tan, R Y Y, Themistocleous, A C, Thrasher, A J, Watkins, H, Webster, A R, Wilkins, M R, Williamson, C, Whitworth, J, Humphray, S, Bentley, D R, Abbs, S, Abulhoul, L, Adlard, J, Ahmed, M, Aitman, T J, Alachkar, H, Allsup, D J, Almeida-King, J, Ancliff, P, Antrobus, R, Armstrong, R, Arno, G, Ashford, S, Astle, W J, Attwood, A, Aurora, P, Babbs, C, Bacchelli, C, Bakchoul, T, Banka, S, Bariana, T, Barwell, J, Batista, J, Baxendale, H E, Beales, P L, Bennett, D L, Bentley, D R, Bierzynska, A, Biss, T, Bitner-Glindzicz, M A K, Black, G C, Bleda, M, Blesneac, I, Bockenhauer, D, Bogaard, H, Bourne, C J, Boyce, S, Bradley, J R, Bragin, E, Breen, G, Brennan, P, Brewer, C, Brown, M, Browning, A C, Browning, M J, Buchan, R J, Buckland, M S, Bueser, T, Diz, C B, Burn, J, Burns, S O, Burren, O S, Burrows, N, Calleja, P, Campbell, C, Carr-White, G, Carss, K, Casey, R, Caulfield, M J, Chambers, J, Chambers, J, Chan, M M Y, Cheah, C, Cheng, F, Chinnery, P F, Chitre, M, Christian, M T, Church, C, Clayton-Smith, J, Cleary, M, Brod, N C, Coghlan, G, Colby, E, Cole, T R P, Collins, J, Collins, P W, Colombo, C, Compton, C J, Condliffe, R, Cook, S, Cook, H T, Cooper, N, Corris, PA A, Furnell, A, Cunningham, F, Curry, N S, Cutler, A J, Daniels, M J, Dattani, M, Daugherty, L C, Davis, J, De Soyza, A, Deevi, S V V, Dent, T, Deshpande, C, Dewhurst, E F, Dixon, P H, Douzgou, S, Downes, K, Drazyk, A M, Drewe, E, Duarte, D, Dutt, T, Edgar, J D M, Edwards, K, Egner, W, Ekani, M N, Elliott, P, Erber, W N, Erwood, M, Estiu, M C, Evans, D G, Evans, G, Everington, T, Eyries, M, Fassihi, H, Favier, R, Findhammer, J, Fletcher, D, Flinter, F A, Floto, R A, Fowler, T, Fox, J, Frary, A J, French, C E, Freson, K, Frontini, M, Gale, D P, Gall, H, Ganesan, V, Gattens, M, Geoghegan, C, Gerighty, T S A, Gharavi, A G, Ghio, S, Ghofrani, H A, Gibbs, J S R, Gibson, K, Gilmour, K C, Girerd, B, Gleadall, N S, Goddard, S, Goldstein, D B, Gomez, K, Gordins, P, Gosal, D, Gräf, S, Graham, J, Grassi, L, Greene, D, Greenhalgh, L, Greinacher, A, Gresele, P, Griffiths, P, Grigoriadou, S, Grocock, R J, Grozeva, D, Gurnell, M, Hackett, S, Hadinnapola, C, Hague, W M, Hague, R, Haimel, M, Hall, M, Hanson, H L, Haque, E, Harkness, K, Harper, A R, Harris, CL L, Hart, D, Hassan, A, Hayman, G, Henderson, A, Herwadkar, A, Hoffman, J, Holden, S, Horvath, R, Houlden, H, Houweling, AC C, Howard, L S, Hu, F, Hudson, G, Hughes, J, Huissoon, A P, Humbert, M, Humphray, S, Hunter, S, Hurles, M, Irving, M, Izatt, L, James, R, Johnson, S A, Jolles, S, Jolley, J, Josifova, D, Jurkute, N, Karten, T, Karten, J, Kasanicki, M A, Kazkaz, H, Kazmi, R, Kelleher, P, Kelly, A M, Kelsall, W, Kempster, C, Kiely, D G, Kingston, N, Klima, R, Koelling, N, Kostadima, M, Kovacs, G, Koziell, A, Kreuzhuber, R, Kuijpers, T W, Kumar, A, Kumararatne, D, Kurian, M A, Laffan, M A, Lalloo, F, Lambert, M, Allen, H L, Lawrie, A, Layton, D M, Lench, N, Lentaigne, C, Lester, T, Levine, A P, Linger, R, Longhurst, H, Lorenzo, L E, Louka, E, Lyons, P A, Machado, R D, MacKenzie Ross, R V, Madan, B, Maher, E R, Maimaris, J, Malka, S, Mangles, S, Mapeta, R, Marchbank, K J, Marks, S, Markus, H S, Marschall, H U, Marshall, A, Martin, J, Mathias, M, Matthews, E, Maxwell, H, McAlinden, P, McCarthy, M I, McKinney, H, McMahon, A, Meacham, S, Mead, A J, Castello, I M, Megy, K, Mehta, SG G, Michaelides, M, Millar, C, Mohammed, S N, Moledina, S, Montani, D, Moore, A T, Morales, J, Morrell, N W, Mozere, M, Muir, K W, Mumford, A D, Nemeth, A H, Newman, W G, Newnham, M, Noorani, S, Nurden, P, O’Sullivan, J, Obaji, S, Odhams, C, Okoli, S, Olschewski, A, Olschewski, H, Ong, K R, Oram, S H, Ormondroyd, E, Ouwehand, W H, Palles, C, Papadia, S, Park, S M, Parry, D, Patel, S, Paterson, J, Peacock, A, Pearce, SH H, Peden, J, Peerlinck, K, Penkett, C J, Pepke-Zaba, J, Petersen, R, Pilkington, C, Poole, K E S, Prathalingam, R, Psaila, B, Pyle, A, Quinton, R, Rahman, S, Rankin, S, Rao, A, Raymond, F L, Rayner-Matthews, P J, Rees, C, Rendon, A, Renton, T, Rhodes, C J, Rice, A S C, Richardson, S, Richter, A, Robert, L, Roberts, I, Rogers, A, Rose, S J, Ross-Russell, R, Roughley, C, Roy, N B A, Ruddy, D M, Sadeghi-Alavijeh, O, Saleem, M A, Samani, N, Samarghitean, C, Sanchis-Juan, A, Sargur, R B, Sarkany, R N, Satchell, S, Savic, S, Sayer, J A, Sayer, G, Scelsi, L, Schaefer, A M, Schulman, S, Scott, R, Scully, M, Searle, C, Seeger, W, Sen, A, Sewell, W A C, Seyres, D, Shah, N, Shamardina, O, Shapiro, S E, Shaw, A C, Short, P J, Sibson, K, Side, L, Simeoni, I, Simpson, MA A, Sims, M C, Sivapalaratnam, S, Smedley, D, Smith, K R, Smith, K G C, Snape, K, Soranzo, N, Soubrier, F, Southgate, L, Spasic-Boskovic, O, Staines, S, Staples, E, Stark, H, Stephens, J, Steward, C, Stirrups, K E, Stuckey, A, Suntharalingam, J, Swietlik, E M, Syrris, P, Tait, R C, Talks, K, Tan, R Y Y, Tate, K, Taylor, J M, Taylor, J C, Thaventhiran, J E, Themistocleous, A C, Thomas, E, Thomas, D, Thomas, M J, Thomas, P, Thomson, K, Thrasher, A J, Threadgold, G, Thys, C, Tilly, T, Tischkowitz, M, Titterton, C, Todd, J A, Toh, C H, Tolhuis, B, Tomlinson, I P, Toshner, M, Traylor, M, Treacy, C, Treadaway, P, Trembath, R, Tuna, S, Turek, W, Turro, E, Twiss, P, Vale, T, Geet, C V, Zuydam, N V, Vandekuilen, M, Vandersteen, A M, Vazquez-Lopez, M, von Ziegenweidt, J, Vonk Noordegraaf, A, Wagner, A, Waisfisz, Q, Walker, S M, Walker, N, Walter, K, Ware, J S, Watkins, H, Watt, C, Webster, A R, Wedderburn, L, Wei, W, Welch, S B, Wessels, J, Westbury, S K, Westwood, J P, Wharton, J, Whitehorn, D, Whitworth, J, Wilkie, A O M, Wilkins, M R, Williamson, C, Wilson, B T, Wong, E K S, Wood, N, Wood, Y, Woods, C G, Woodward, ER R, Wort, S J, Worth, A, Wright, M, Yates, K, Yong, P F K, Young, T, Yu, P, Yu-Wai-Man, P, Zlamalova, E, Kingston, N, Walker, N, Bradley, J R, Ashford, S, Penkett, C J, Freson, K, Stirrups, K E, Raymond, F L, Ouwehand, W H & NIHR BioResource for the 100,000 Genomes Project 2020, 'Whole-genome sequencing of patients with rare diseases in a national health system', Nature, vol. 583, no. 7814, pp. 96-102. https://doi.org/10.1038/s41586-020-2434-2
Turro, E, Mumford, A D, Saleem, M A & al., E 2020, 'Whole-genome sequencing of patients with rare diseases in a national health system', Nature, vol. 583, pp. 96-102. https://doi.org/10.1038/s41586-020-2434-2
Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina, O, Allen, H L, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, O S, Downes, K, Haimel, M, Tuna, S, Deevi, S V V, Aitman, T J, Bennett, D L, Calleja, P, Carss, K, Caulfield, M J, Chinnery, P F, Dixon, P H, Gale, D P, James, R, Koziell, A, Laffan, M A, Levine, A P, Maher, E R, Markus, H S, Morales, J, Morrell, N W, Mumford, A D, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Bennett, D L, Bueser, T, Carr-White, G, Flinter, F A, Irving, M, Josifova, D, Koziell, A, Mohammed, S N, Thomas, E, Traylor, M & Trembath, R & Williamson, C 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature, vol. 583, no. 7814, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2
Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina, O, Allen, H L, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, O S, Downes, K, Haimel, M, Tuna, S, Deevi, S V V, Aitman, T J, Bennett, D L, Calleja, P, Carss, K, Caulfield, M J, Chinnery, P F, Dixon, P H, Gale, D P, James, R, Koziell, A, Laffan, M A, Levine, A P, Maher, E R, Markus, H S, Morales, J, Morrell, N W, Mumford, A D, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Bennett, D L, Bueser, T, Carr-White, G, Flinter, F A, Irving, M, Josifova, D, Koziell, A, Mohammed, S N, Thomas, E, Traylor, M & Trembath, R & Williamson, C 2020, 'Whole-genome sequencing of patients with rare diseases in a national health system', Nature, vol. 583, no. 7814, pp. 96-102. https://doi.org/10.1038/s41586-020-2434-2
Nature
Academic Journal
Wei, WTuna, SKeogh, MJSmith, KRAitman, TJBeales, PLBennett, DLGale, DPBitner-Glindzicz, MAKBlack, GCBrennan, PElliott, PFlinter, FAFloto, RAHoulden, HIrving, MKoziell, AMaher, ERMarkus, HSMorrell, NWNewman, WGRoberts, ISayer, JASmith, KGCTaylor, JCWatkins, HWebster, ARWilkie, AOMWilliamson, CAttwood, ABrown, MBrod, NCCrisp-Hihn, ADavis, JDeevi, SVVDewhurst, EFEdwards, KErwood, MFox, JFrary, AJHu, FJolley, JKingston, NLinger, RMapeta, RMartin, JMeacham, SPapadia, SRayner-Matthews, PJSamarghitean, CShamardina, OSimeoni, IStaines, SStaples, EStark, HStephens, JTitterton, CVon Ziegenweidt, JWatt, CWhitehorn, DWood, YYates, KYu, PJames, RAshford, SPenkett, CJStirrups, KEBariana, TLentaigne, CSivapalaratnam, SWestbury, SKAllsup, DJBakchoul, TBiss, TBoyce, SCollins, JCollins, PWCurry, NSDownes, KDutt, TErber, WNEvans, GEverington, TFavier, RGomez, KGreene, DGresele, PHart, DKazmi, RKelly, AMLambert, MMadan, BMangles, SMathias, MMillar, CObaji, SPeerlinck, KRoughley, CSchulman, SScully, MShapiro, SESibson, KSims, MCTait, RCTalks, KThys, CToh, C-HVan Geet, CWestwood, J-PMumford, ADOuwehand, WHFreson, KLaffan, MATan, RYYHarkness, KMehta, SMuir, KWHassan, ATraylor, MDrazyk, AMParry, DAhmed, MKazkaz, HVandersteen, AMOrmondroyd, EThomson, KDent, TBuchan, RJBueser, TCarr-White, GCook, SDaniels, MJHarper, ARWare, JSDixon, PHChambers, JCheng, FEstiu, MCHague, WMMarschall, H-UVazquez-Lopez, MArno, GFrench, CEMichaelides, MMoore, ATSanchis-Juan, ACarss, KRaymond, FLChinnery, PFGriffiths, PHorvath, RHudson, GJurkute, NPyle, AYu-Wai-Man, PWhitworth, JAdlard, JArmstrong, RBrewer, CCasey, RCole, TRPEvans, DGGreenhalgh, LHanson, HLHoffman, JIzatt, LKumar, ALalloo, FOng, KRPark, S-MSearle, CSide, LSnape, KWoodward, ETischkowitz, MGrozeva, DKurian, MAThemistocleous, ACGosal, DMarshall, AMatthews, EMcCarthy, MIRenton, TRice, ASCVale, TWalker, SMWoods, CGThaventhiran, JEAllen, HLSavic, SAlachkar, HAntrobus, RBaxendale, HEBrowning, MJBuckland, MSCooper, NEdgar, JDMEgner, WGilmour, KCGoddard, SGordins, PGrigoriadou, SHackett, SHague, RHayman, GHerwadkar, AHuissoon, APJolles, SKelleher, PKumararatne, DLonghurst, HLorenzo, LELyons, PAMaimaris, JNoorani, SRichter, ASargur, RBSewell, WACThomas, DThomas, MJWorth, AYong, PFKKuijpers, TWThrasher, AJLevine, APSadeghi-Alavijeh, OWong, EKSCook, HTChan, MMYHall, MHarris, CMcAlinden, PMarchbank, KJMarks, SMaxwell, HMozere, MWessels, JJohnson, SABleda, MHadinnapola, CHaimel, MSwietlik, EBogaard, HChurch, CCoghlan, GCondliffe, RCorris, PDanesino, CEyries, MGall, HGhofrani, H-AGibbs, JSRGirerd, BHolden, SHouweling, AHoward, LSHumbert, MKiely, DGKovacs, GLawrie, ARoss, RVMMoledina, SMontani, DNewnham, MOlschewski, AOlschewski, HPeacock, APepke-Zaba, JScelsi, LSeeger, WSoubrier, FSuntharalingam, JToshner, MTreacy, CTrembath, RNoordegraaf, AVWaisfisz, QWharton, JWilkins, MRWort, SJGraf, SLouka, ERoy, NBRao, AAncliff, PBabbs, CLayton, DMMead, AJO'Sullivan, JOkoli, SSaleem, MBierzynska, ADiz, CBColby, EEkani, MNSatchell, SFowler, TRendon, AScott, RSmedley, DThomas, ECaulfield, MAbbs, SBurrows, NChitre, MGattens, MGurnell, MKelsall, WPoole, KESRoss-Russell, RSpasic-Boskovic, OTwiss, PWagner, ABanka, SClayton-Smith, JDouzgou, SAbulhoul, LAurora, PBockenhauer, DCleary, MDattani, MGanesan, VPilkington, CRahman, SShah, NWedderburn, LCompton, CJDeshpande, CFassihi, HHaque, EJosifova, DMohammed, SNRobert, LRose, SJRuddy, DMSarkany, RNSayer, GShaw, ACCampbell, CGibson, KKoelling, NLester, TNemeth, AHPalles, CPatel, SSen, ATaylor, JTomlinson, IPMalka, SBrowning, ACBurn, JDe Soyza, AGraham, JPearce, SQuinton, RSchaefer, AMWilson, BTWright, MSimpson, MSyrris, PBradley, JRTurro, E
Tomlinson, I 2019, ' Germline selection shapes human mitochondrial DNA diversity ', Science, vol. 364, no. 6442, pp. 749-+ . https://doi.org/10.1126/science.aau6520
NIHR BioResource-Rare Diseases, 100,000 Genomes Project–Rare Diseases Pilot, Wei, W, Tuna, S, Keogh, M J, Smith, K R, Aitman, T J, Beales, P L, Bennett, D L, Gale, D P, Bitner-Glindzicz, M A K, Black, G C, Brennan, P, Elliott, P, Flinter, F A, Floto, R A, Houlden, H, Irving, M, Koziell, A, Maher, E R, Markus, H S, Morrell, N W, Newman, W G, Roberts, I, Sayer, J A, Smith, K G C, Taylor, J C, Watkins, H, Webster, A R, Wilkie, A O M, Williamson, C, Ashford, S, Penkett, C J, Stirrups, K E, Rendon, A, Ouwehand, W H, Bradley, J R, Raymond, F L, Caulfield, M, Turro, E & Chinnery, P F 2019, 'Germline selection shapes human mitochondrial DNA diversity', Science (New York, N.Y.), vol. 364, no. 6442, pp. 1-13. https://doi.org/10.1126/science.aau6520
Science
Academic Journal
JOURNAL OF MEDICAL GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
van de Kamp, J M, Betsalel, O T, Mercimek-Mahmutoglu, S, Abulhoul, L, Grunewald, S, Anselm, I, Azzouz, H, Bratkovic, D, de Brouwer, A, Hamel, B, Kleefstra, T, Yntema, H, Campistol, J, Vilaseca, M A, Cheillan, D, D'Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, Haar, S, Meijers-Heijboer, H E, Hofstede, F, Johnson, D, Kant, S G, Lion-Francois, L, Pitelet, G, Longo, N, Maat-Kievit, J A, Monteiro, J P, Munnich, A, Muntau, A C, Nassogne, M C, Osaka, H, Ounap, K, Pinard, J M, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, O A, Ribes, A, Arias, A, Yaplito-Lee, J, Schulze, A, Schwartz, C E, Schwenger, S, Soares, G, Sznajer, Y, Valayannopoulos, V, Van Esch, H, Waltz, S, Wamelink, M M C, Pouwels, P J W, Errami, A, van der Knaap, M S, Jakobs, C A J M, Mancini, G M & Salomons, G S 2013, 'Phenotype and genotype in 101 males with X-linked creatine transporter deficiency', Journal of Medical Genetics, vol. 50, no. 7, pp. 463-472. https://doi.org/10.1136/jmedgenet-2013-101658
Journal of Medical Genetics, 50, 7, pp. 463-72
Academic Journal
Smedley, DamianSmith, Katherine R.Martin, AntonioThomas, Ellen A.McDonagh, Ellen M.Cipriani, ValentinaEllingford, Jamie M.Arno, GavinTucci, AriannaVandrovcova, JanaChan, GeorgiaWilliams, Hywel J.Ratnaike, ThilokaWei, WeiStirrups, KathleenIbanez, KristinaMoutsianas, LoukasWielscher, MatthiasNeed, AnnaBarnes, Michael R.Vestito, LetiziaBuchanan, JamesWordsworth, SarahAshford, SofieRehmstrom, KarolaLi, EmilyFuller, GavinTwiss, PhilipSpasic-Boskovic, OliveraHalsall, SallyFloto, R. AndresPoole, KennethWagner, AnnetteMehta, Sarju G.Gurnell, MarkBurrows, NigelJames, RogerPenkett, ChristopherDewhurst, EleanorGraf, StefanMapeta, RutendoKasanicki, MaryHaworth, AndreaSavage, HelenBabcock, MelanieReese, Martin G.Bale, MarkBaple, EmmaBoustred, ChristopherBrittain, Helende Burca, AnnaBleda, MartaDevereau, AndrewHalai, DinaHaraldsdottir, EikHyder, ZerinKasperaviciute, DaliaPatch, ChristinePolychronopoulos, DimitrisMatchan, AngelaSultana, RazvanRyten, MinaTavares, Ana L. T.Tregidgo, CarolynTurnbull, ClareWelland, MatthewWood, SuzanneSnow, CatherineWilliams, EleanorLeigh, SarahFoulger, Rebecca E.Daugherty, Louise C.Niblock, OliviaLeong, Ivone U. S.Wright, Caroline F.Davies, JimCrichton, CharlesWelch, JamesWoods, KerrieAbulhoul, LaraAurora, PaulBockenhauer, DetlefBroomfield, AlexanderCleary, Maureen A.Lam, TanyaDattani, MehulFootitt, EmmaGanesan, VijeyaGrunewald, StephanieCompeyrot-Lacassagne, SandrineMuntoni, FrancescoPilkington, ClarissaQuinlivan, RosalineThapar, NikhilWallis, ColinWedderburn, Lucy R.Worth, AustenBueser, TeofilaCompton, CeciliaDeshpande, CharuFassihi, HivaHaque, EshikaIzatt, LouiseJosifova, DraganaMohammed, ShehlaRobert, LeemaRose, SarahRuddy, DeborahSarkany, RobertSay, GenevieveShaw, Adam C.Wolejko, AgataHabib, BishoyBurns, GavinHunter, SarahGrocock, Russell J.Humphray, Sean J.Robinson, Peter N.Haendel, MelissaSimpson, Michael A.Banka, SiddharthClayton-Smith, JillDouzgou, SofiaHall, GeorginaThomas, Huw B.O'Keefe, Raymond T.Michaelides, MichelMoore, Anthony T.Malka, SamPontikos, NikolasBrowning, Andrew C.Straub, VolkerGorman, Grainne S.Horvath, RitaQuinton, RichardSchaefer, Andrew M.Yu-Wai-Man, PatrickTurnbull, Doug M.McFarland, RobertTaylor, Robert W.O'Connor, EmerYip, JaniceNewland, KatrinaMorris, Huw R.Polke, JamesWood, Nicholas W.Campbell, CarolynCamps, CarmeGibson, KateKoelling, NilsLester, TracyNemeth, Andrea H.Palles, ClaireRoy, Noemi B. A.Sen, ArjuneTaylor, JohnCacheiro, PilarJacobsen, Julius O.Seaby, Eleanor G.Davison, ValChitty, LynDouglas, AngelaNaresh, KikkeriMcMullan, DomEllard, SianTemple, I. KarenMumford, Andrew D.Wilson, GillBeales, PhilBitner-Glindzicz, MariaBlack, GraemeBradley, John R.Brennan, PaulBurn, JohnChinnery, Patrick F.Elliott, PerryFlinter, FrancesHoulden, HenryIrving, MelitaNewman, WilliamRahman, ShamimaSayer, John A.Taylor, Jenny C.Webster, Andrew R.Wilkie, Andrew O. M.Ouwehand, Willem H.Raymond, F. LucyChisholm, JohnHill, SueBentley, DavidScott, Richard H.Fowler, TomRendon, AugustoCaulfield, Mark10000 Genomes Project Pilot
NEW ENGLAND JOURNAL OF MEDICINE; NOV 11 2021, 385 20, p1868-p1880, 13p.
Academic Journal
El Naofal M; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Ramaswamy S; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Alsarhan A; General Pediatrics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Nugud A; General Pediatrics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Sarfraz F; General Pediatrics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Janbaz H; General Pediatrics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Taylor A; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Jain R; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Halabi N; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Yaslam S; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Alfalasi R; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Shenbagam S; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Rabea F; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.; Bitzan M; Kidney Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Yavuz L; General Pediatrics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Wafadari D; General Pediatrics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Abulhoul H; Department of Metabolic Medicine, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Shankar S; Critical Care Centre of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Al Maazmi M; Critical Care Centre of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Rizk R; Adolescent Medicine, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Alloub Z; Neurodevelopment Section, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Elbashir H; Neuroscience Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Babiker MOE; Neurology Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Chencheri N; Neurology Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; AlBanna A; Mental Health Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Sultan M; Mental Health Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; El Bitar M; ENT Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Kherani S; ENT Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Thalange N; Endocrinology Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Alshryda S; Orthopedics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Di Donato R; Cardiology Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Tzivinikos C; Gastroenterology Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Majid I; Orthopedics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Freeman AF; National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA.; Gonzalez C; Immune Deficiency Cellular Therapy Program, National Cancer Institute, NIH, Bethesda, MD, USA.; Khan AO; Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates.; Hamdan H; Pulmonology and Sleep Medicine Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Abuhammour W; Infectious Diseases Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; AlAwadhi M; Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; AlKhayat A; Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Alsheikh-Ali A; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.; Dubai Health Authority, Dubai, United Arab Emirates.; Abou Tayoun AN; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates. Ahmad.Tayoun@ajch.ae.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates. Ahmad.Tayoun@ajch.ae.
Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE
Report
Halabi N; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Ramaswamy S; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; El Naofal M; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Taylor A; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Yaslam S; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Jain R; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Alfalasi R; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Shenbagam S; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Bitzan M; Kidney Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Yavuz L; General Pediatrics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Abulhoul H; Department of Metabolic Medicine, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Shankar S; Critical Care Centre of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Janjua D; Critical Care Centre of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Jadhav D; Critical Care Centre of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Al Maazmi MM; Critical Care Centre of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Abuhammour W; Infectious Diseases Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Alsheikh-Ali A; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.; Dubai Health Authority, Dubai, United Arab Emirates.; Al Awadhi M; Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Al Khayat A; Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Abou Tayoun AN; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates. Ahmad.Tayoun@ajch.ae.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates. Ahmad.Tayoun@ajch.ae.
Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE
Academic Journal
Turro E; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK. et341@cam.ac.uk.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK. et341@cam.ac.uk.; MRC Biostatistics Unit, Cambridge Institute of Public Health, University of Cambridge, Cambridge, UK. et341@cam.ac.uk.; Astle WJ; MRC Biostatistics Unit, Cambridge Institute of Public Health, University of Cambridge, Cambridge, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK.; Megy K; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.; Gräf S; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.; Department of Medicine, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; Greene D; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; MRC Biostatistics Unit, Cambridge Institute of Public Health, University of Cambridge, Cambridge, UK.; Shamardina O; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.; Allen HL; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.; Sanchis-Juan A; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.; Frontini M; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK.; British Heart Foundation Cambridge Centre of Excellence, University of Cambridge, Cambridge, UK.; Thys C; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium.; Stephens J; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.; Mapeta R; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.; Burren OS; Department of Medicine, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; Cambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK.; Downes K; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.; Haimel M; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.; Department of Medicine, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; Tuna S; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.; Deevi SVV; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.; Aitman TJ; MRC Clinical Sciences Centre, Faculty of Medicine, Imperial College London, London, UK.; Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.; Bennett DL; The Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK.; NIHR Oxford Biomedical Research Centre, Oxford University Hospitals Trust, Oxford, UK.; Calleja P; High Performance Computing Service, University of Cambridge, Cambridge, UK.; Carss K; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.; Caulfield MJ; Genomics England Ltd, London, UK.; William Harvey Research Institute, NIHR Biomedical Research Centre at Barts, Queen Mary University of London, London, UK.; Chinnery PF; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; Medical Research Council Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, UK.; Dixon PH; Women and Children's Health, School of Life Course Sciences, King's College London, London, UK.; Gale DP; Department of Renal Medicine, University College London, London, UK.; Rare Renal Disease Registry, UK Renal Registry, Bristol, UK.; James R; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.; Koziell A; King's College London, London, UK.; Department of Paediatric Nephrology, Evelina London Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.; Laffan MA; Department of Haematology, Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK.; Centre for Haematology, Imperial College London, London, UK.; Levine AP; Department of Renal Medicine, University College London, London, UK.; Maher ER; Department of Medical Genetics, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR Cambridge Biomedical Research Centre, Cambridge Biomedical Campus, Cambridge, UK.; Cancer Research UK Cambridge Centre, Cambridge Biomedical Campus, Cambridge, UK.; Markus HS; Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Bristol, UK.; Morales J; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Cambridge, UK.; Morrell NW; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.; Department of Medicine, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; Mumford AD; School of Cellular and Molecular Medicine, University of Bristol, Bristol, UK.; University Hospitals Bristol NHS Foundation Trust, Bristol, UK.; Ormondroyd E; NIHR Oxford Biomedical Research Centre, Oxford University Hospitals Trust, Oxford, UK.; Department of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; Rankin S; High Performance Computing Service, University of Cambridge, Cambridge, UK.; Rendon A; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; Genomics England Ltd, London, UK.; Richardson S; MRC Biostatistics Unit, Cambridge Institute of Public Health, University of Cambridge, Cambridge, UK.; Roberts I; NIHR Oxford Biomedical Research Centre, Oxford University Hospitals Trust, Oxford, UK.; MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Department of Paediatrics, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Roy NBA; NIHR Oxford Biomedical Research Centre, Oxford University Hospitals Trust, Oxford, UK.; MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Saleem MA; Bristol Renal and Children's Renal Unit, Bristol Medical School, University of Bristol, Bristol, UK.; Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.; Smith KGC; Department of Medicine, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; Cambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK.; Stark H; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.; Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.; Tan RYY; Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Bristol, UK.; Themistocleous AC; The Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK.; Thrasher AJ; UCL Great Ormond Street Institute of Child Health, London, UK.; Watkins H; Department of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.; Webster AR; Moorfields Eye Hospital NHS Trust, London, UK.; UCL Institute of Opthalmology, University College London, London, UK.; Wilkins MR; Department of Medicine, Imperial College London, London, UK.; Williamson C; Women and Children's Health, School of Life Course Sciences, King's College London, London, UK.; Institute of Reproductive and Developmental Biology, Department of Surgery and Cancer, Faculty of Medicine, Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK.; Whitworth J; Department of Medical Genetics, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR Cambridge Biomedical Research Centre, Cambridge Biomedical Campus, Cambridge, UK.; Cancer Research UK Cambridge Centre, Cambridge Biomedical Campus, Cambridge, UK.; Humphray S; Illumina Cambridge, Little Chesterford, UK.; Bentley DR; Illumina Cambridge, Little Chesterford, UK.; Kingston N; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.; Walker N; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.; Bradley JR; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.; Department of Medicine, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR Cambridge Biomedical Research Centre, Cambridge Biomedical Campus, Cambridge, UK.; Addenbrookes Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Renal Medicine, Addenbrookes Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Ashford S; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.; Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.; Penkett CJ; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.; Freson K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium.; Stirrups KE; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.; Raymond FL; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK. flr24@cam.ac.uk.; Department of Medical Genetics, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK. flr24@cam.ac.uk.; Ouwehand WH; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK. who1000@cam.ac.uk.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK. who1000@cam.ac.uk.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK. who1000@cam.ac.uk.; British Heart Foundation Cambridge Centre of Excellence, University of Cambridge, Cambridge, UK. who1000@cam.ac.uk.; Wellcome Sanger Institute, Cambridge, UK. who1000@cam.ac.uk.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE
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