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 384건 | 목록 1~20
Academic Journal
Currò, RiccardoDominik, NataliaFacchini, StefanoVegezzi, ElisaSullivan, RoisinGalassi Deforie, ValentinaFernández-Eulate, GorkaTraschütz, AndreasRossi, SalvatoreGaribaldi, MatteoKwarciany, MariuszTaroni, FrancoBrusco, AlfredoGood, Jean-MarcCavalcanti, FrancescaHammans, SimonRavenscroft, GianinaRoxburgh, Richard HAlbájar, InésAshton, CatherineBeauchamp, NickBeecroft, Sarah JBellone, EmiliaBerciano, JosèBogdanova-Mihaylova, PetyaBorroni, BarbaraBrais, BernardBugiardini, EnricoCampos, CatarinaCarr, AislingCarroll, LiamCastellani, FrancescaCavallaro, TizianaChinnery, Patrick FColnaghi, SilviaCosentino, GiuseppeDamasio, JoanaDas, SomaDevigili, GraziaDi Bella, DanielaDick, DavidDurr, AlexandraEl-Saddig, AmarFaber, JenniferFerrarini, MorenoFilosto, MassimilianoFuller, GeraintGallone, SalvatoreGemelli, ChiaraGrandis, MarinaHardy, JohnHewamadduma, ChannaHorvath, RitaHuin, VincentImperiale, DanieleIruzubieta, PabloKaski, DiegoKing, AndrewKlockgether, ThomasKoç, MügeKumar, Kishore RKuntzer, ThierryLaing, NigelLaurà, MatildeLavin, TimothyLeigh, Peter NigelLeonardis, LeaLunn, Michael PMagri, StefaniaMagrinelli, FrancescaMalaquias, Maria JoãoMancuso, MichelangeloManji, HadiMassucco, SaraMcConville, JohnMunhoz, Renato PNagy, SaraNdayisaba, AlainNemeth, Andrea HilaryNovis, Luiz EduardoPalmio, JohannaPegoraro, ElenaPellerin, DavidPerrone, BenedettaPisciotta, ChiaraPolke, JamesProudfoot, MalcolmOrsi, LauraRadunovic, AleksandarRiva, NiloRobert, AikoRonco, RiccardoRossini, ElenaRossor, Alex MŞahbaz, IrmakSa’di, QaisSalsano, EttoreSalvalaggio, AlessandroSantoro, LucioSarto, ElisaSchaefer, AndrewSchenone, AngeloScriba, CarolinShaw, JosephSilvestri, GabriellaStevens, JamesStrupp, MichaelSumner, Charlotte JSzymura, AgnieszkaTagliapietra, MatteoTassorelli, CristinaTessa, AlessandraTheaudin, MarieTomaselli, PedroTozza, StefanoTucci, AriannaValente, Enza MariaVersino, MaurizioWalsh, Richard AWood, Nick WYau, Way YanZuchner, StephanParolin Schnekenberg, RicardoRugginini, BiancaAbati, ElenaManini, AriannaQuartesan, IlariaGhia, AriannaLòpez de Munaìn, AdolfoManganelli, FioreKennerson, MarinaSantorelli, Filippo MariaInfante, JonMarques, WilsonJokela, ManuMurphy, Sinéad MMandich, PaolaFabrizi, Gian MariaBriani, ChiaraGosal, DavidPareyson, DavideFerrari, AlbertoPrados, FerranYousry, TarekKhurana, VikramKuo, Sheng-HanMiller, JamesTroakes, ClaireJaunmuktane, ZaneGiunti, PaolaHartmann, AnnetteBasak, NazliSynofzik, MatthisStojkovic, TanyaHadjivassiliou, MariosReilly, Mary MHoulden, HenryCortese, Andreanull, null
Brain
O2, repositorio institucional de la UOC
Universitat Oberta de Catalunya (UOC)
Brain 147(5), 1887-1898 (2024). doi:10.1093/brain/awad436
Brain, vol. 147, no. 5, pp. 1887-1898
Academic Journal
International Journal of Molecular Sciences. July 2025, Vol. 26 Issue 13
Academic Journal
Jackson, AdamVerloes, AlainCorvo, AlbertoFerlini, AlessandraCosta, AlessiaHoischen, AlexanderDurr, AlexandraKrebsová, AliceMetcalfe, AlisonRath, AnaTöpf, AnaPapakonstantinou, AnastasiosTraschütz, AndreasBruel, Ange-LineCodina, Anna EsteveHeinzmann, AnnaSommer, Anna KatharinaSarkozy, AnnaTorella, AnnalauraDenommé-Pichon, Anne-SophieBrookes, Anthony J.Atalaia, AntonioVitobello, AntonioResch, Baptistvan de Warrenburg, Bartvan der Sanden, BartZurek, BirteKeren, BorisEymard, BrunoYaldiz, BurcuOliveira, CarlaHernández, CarlesWilke, CarloLucano, CaterinaJosé, Celina SãoMillevert, CharissaBettolo, Chiara MariniThauvin, ChristelBoßelmann, ChristianGilissen, ChristianDavoine, Claire-SophieThomas, ColineMetay, CorinneMignot, CyrilThomasová, DanaDanis, DanielPicó, DanielBeijer, DaniqueLagorce, DavidRuvolo, DavidPiscia, DavideSukumaran, DeepthiHeron, DelphineRoelofs-Prins, DieuwkeSpalding, DylanCali, ElisaAlexander, Elizabethde Boer, ElkeRaineri, EmanueleLebreton, EmelineCohen, EnzoJanssen, ErikKamsteeg, Erik-JanZonneveld-Huijssoon, EvelineCarneiro, FátimaGualandi, FrancescaMagrinelli, FrancescaMuntoni, Francescode Vries, GeertBullich, Gemmavan der Vries, GerbenDemidov, GermanStevanin, GiovanniBonne, GisèleCoarelli, GiuliaPiluso, GiulioRobert, GlennWarren, GregGumus, GulcinBrunner, HanStamberger, HannahScheffer, HansMorsy, HebaParkinson, HelenHoulden, HenryHengel, HolgerLerche, HolgerGraessner, HolmParamonov, IdaKolen, IngridGullo, IreneZaharieva, IrinaPaske, Iris teSpier, IsabelNelson, IsabelleGut, Ivo GlynneVandrovcova, JanaAgathe, Jean-Madeleine de SainteClayton-Smith, JillXu, Jishuvan der Velde, Joeri K.Baets, JonathanDe Winter, JonathanRohrer, JonathanPark, JoohyunManera, Jordi DiazGarcia-Pelaez, JoseKegele, JosuaSchulze-Hentrich, Julia M.Müller, JulianeEngelhardt, KarinSablauskas, KarolisEllwanger, KorneliaNeveling, KorneliaAbbott, Kristin M.Faivre, LaurenceGuillot-Noel, LénaJohansson, LennartSchütz, LeonMatalonga, LeslieVan de Vondel, LiedeweiVissers, Lisenka E.L.M.Schöls, LudgerRyba, LukášPerry, LukeGarrido, LuziaSagath, LydiaFreeberg, MalloryMorleo, ManuelaDabad, MarcHanauer, MarcSturm, MarcNeri, MarcellaFernandez-Callejo, MarcosTurnovec, MarekZanobio, Mariateresavan Gijn, MarielleHavlovicová, MarkétaSteehouwer, MarloesChahdil, MarouaFerreira, MartaGut, MartaReilly, MarySynofzik, MatthisKellner, MelaniePinelli, MicheleHanna, MikeMacek, Milan, Jr.Swertz, Morris A.Hoogerbrugge, Nicolinevan Os, NienkeSmal, NoorRiess, OlafHongnat, OscarMoloney, PatrickDoležalová, PavlaFerreira, Pedro’t Hoen, Peter A.C.de Jonghe, PeterHeutink, PeterRobinson, PeterLišková, PetraNeerincx, Pieter B.Ben Yaou, RabahKremliková, Radka PourováBellampalli, RavishankaraSchüle, RebeccaMoore, Richardde Voer, Richarda M.Barbosa-Matos, RitaSelvatici, RitaLauerer-Braun, RobertZeuli, RobertaAbadijou, SadeghNalagandla, Sai AnuhyaBanfi, SandroSisodiya, Sanjay M.Weckhuysen, SarahKöhler, SebastianBeltran, SergiDrunat, SéverineBanka, SiddharthPeters, SophiaHambleton, SophieGibson, 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ManonDe la Paz, Manuel PosadaBourbouli, MaraAbramowicz, MarcScala, MarcelloFerilli, MarcoSavarese, MarcoTartaglia, MarcoDeschauer, MarcusMolnar, Maria JuditCilio, Maria-RobertaGreally, MarieHoffer, Mariette J.V.Spilioti, MarthaPauly, MartjeO'Reghan, MaryHaimel, MatthiasKarakaya, MertIacomino, MicheleDrakos, MinasJohari, MridulAllen, NicholasSchuermans, NikaDelanty, NormanMonestier, OlivierKiliçarslan, Özge AkselScudieri, PaoloUva, PaoloStriano, PasqualeChinnery, Patrick F.May, PatrickBalicza, PeterHackman, PeterThompson, RachelJamra, Rami AbouHerzog, RebeccaLuknárová, RebekaGuerrini, RenzoHorvath, RitaColobran, Rogervan Heurck, RoxaneMary, SandrineDuerinckx, SarahBalestrini, SimonaFurini, SimoneMalaichamy, SivasankarMoortgat, StéphanieByrne, SusanBrohée, SylvainRatnaike, ThilokaBartolomaeus, TobiasBenoit, ValerieSteinke-Lange, VerenaYépez, Vicente A.Sznajer, YvesDi Feo, Maria FrancescaMatalonga Borrel, LeslieVissers, Lisenkade Voer, RichardaLesca, GaëtanGayathri, Swethaa NatrajCossee, MireillePerrin, AurelienBonne, GiseleVerdonschot, Job A.J.
In Genetics in Medicine November 2025
Academic Journal
Abbott, Kristin M.Banka, Siddharthde Boer, ElkeCiolfi, AndreaClayton-Smith, JillDallapiccola, BrunoDenommé-Pichon, Anne-SophieFaivre, LaurenceGilissen, ChristianHaack, Tobias B.Havlovicova, MarketaHoischen, AlexanderJackson, AdamKerstjens, MiekeKleefstra, TjitskeMartín, Estrella LópezMacek, Milan, Jr.Matalonga, LeslieMaystadt, IsabelleMorleo, ManuelaNigro, VicenzoPinelli, MichelePizzi, SimonePosada, ManuelRadio, Francesca C.Renieri, AlessandraRiess, OlafRooryck, CarolineRyba, LukasAgathe, Jean-Madeleine de SainteSanten, Gijs W.E.Schwarz, MartinTartaglia, MarcoThauvin, ChristelTorella, AnnalauraTrimouille, AurélienVerloes, AlainVissers, LisenkaVitobello, AntonioVotypka, PavelZguro, KristinaBoer, Elke deCohen, EnzoDanis, DanielGao, FeiHorvath, RitaJohari, MridulJohanson, LennartLi, ShuangMorsy, HebaNelson, IsabelleParamonov, Idate Paske, Iris B.A.W.Robinson, PeterSavarese, MarcoSteyaert, WouterTöpf, Anavan der Velde, Joeri K.Vandrovcova, JanaGraessner, HolmZurek, BirteEllwanger, KorneliaOssowski, StephanDemidov, GermanSturm, MarcSchulze-Hentrich, Julia M.Schüle, RebeccaXu, JishuKessler, ChristophWayand, MelanieSynofzik, MatthisWilke, CarloTraschütz, AndreasSchöls, LudgerHengel, HolgerLerche, HolgerKegele, JosuaHeutink, PeterBrunner, HanScheffer, HansHoogerbrugge, Nicoline‘t Hoen, Peter A.C.Vissers, Lisenka E.L.M.Sablauskas, Karolisde Voer, Richarda M.Kamsteeg, Erik-Janvan de Warrenburg, Bartvan Os, NienkePaske, Iris teJanssen, ErikSteehouwer, MarloesYaldiz, BurcuBrookes, Anthony J.Veal, ColinGibson, SpencerMaddi, VatsalyaMehtarizadeh, MehdiRiaz, UmarWarren, GregDizjikan, Farid YavariShorter, ThomasStraub, VolkerBettolo, Chiara MariniManera, Jordi DiazHambleton, SophieEngelhardt, KarinAlexander, ElizabethDuffourd, YannisBruel, Ange-LinePeyron, ChristinePélissier, AuroreBeltran, SergiGut, Ivo GlynneLaurie, StevenPiscia, DavidePapakonstantinou, AnastasiosBullich, GemmaCorvo, AlbertoFernandez-Callejo, MarcosHernández, CarlesPicó, DanielLochmüller, HannsGumus, GulcinBros-Facer, VirginieRath, AnaHanauer, MarcLagorce, DavidHongnat, OscarChahdil, MarouaLebreton, EmelineStevanin, GiovanniDurr, AlexandraDavoine, Claire-SophieGuillot-Noel, LénaHeinzmann, AnnaCoarelli, GiuliaBonne, GisèleEvangelista, TeresinhaAllamand, ValérieBen Yaou, RabahMetay, CorinneEymard, BrunoAtalaia, AntonioStojkovic, TanyaTurnovec, MarekThomasová, DanaKremliková, Radka PourováFranková, VeraHavlovicová, MarkétaLišková, PetraDoležalová, PavlaParkinson, HelenKeane, ThomasFreeberg, MalloryThomas, ColineSpalding, DylanRobert, GlennCosta, AlessiaPatch, ChristineHanna, MikeHoulden, HenryReilly, MaryEfthymiou, StephanieCali, ElisaMagrinelli, FrancescaSisodiya, Sanjay M.Rohrer, JonathanMuntoni, FrancescoZaharieva, IrinaSarkozy, AnnaTimmerman, VincentBaets, Jonathande Vries, GeertDe Winter, JonathanBeijer, Daniquede Jonghe, PeterVan de Vondel, LiedeweiDe Ridder, WillemWeckhuysen, SarahNigro, VincenzoMutarelli, MargheritaVaravallo, AlessandraBanfi, SandroMusacchia, FrancescoPiluso, GiulioFerlini, AlessandraSelvatici, RitaGualandi, FrancescaBigoni, StefaniaRossi, RacheleNeri, MarcellaAretz, StefanSpier, IsabelSommer, Anna KatharinaPeters, SophiaOliveira, CarlaPelaez, Jose GarciaMatos, Ana RitaJosé, Celina SãoFerreira, MartaGullo, IreneFernandes, SusanaGarrido, LuziaFerreira, PedroCarneiro, FátimaSwertz, Morris A.Johansson, Lennartvan der Vries, GerbenNeerincx, Pieter B.Ruvolo, DavidKerstjens Frederikse, Wilhemina S.Zonneveld-Huijssoon, EvelineRoelofs-Prins, Dieuwkevan Gijn, MarielleKöhler, SebastianMetcalfe, AlisonDrunat, SéverineHeron, DelphineMignot, CyrilKeren, BorisLacombe, DidierTrimouille, AurelienCapella, GabrielValle, LauraHolinski-Feder, ElkeLaner, AndreasSteinke-Lange, VerenaCilio, Maria-RobertaCarpancea, EvelinaDepondt, ChantalLederer, DamienSznajer, YvesDuerinckx, SarahMary, SandrineMacaya, AlfonsCazurro-Gutiérrez, AnaPérez-Dueñas, BelénMunell, FrancinaJarava, Clara FrancoMasó, Laura BatlleMarcé-Grau, AnnaColobran, RogerHackman, PeterUdd, BjarneHemelsoet, DimitriDermaut, BartSchuermans, NikaPoppe, BruceVerdin, HannahOsorio, Andrés NascimentoDepienne, ChristelRoos, AndreasCordts, IsabellDeschauer, MarcusStriano, PasqualeZara, FedericoRiva, AntonellaIacomino, MicheleUva, PaoloScala, MarcelloScudieri, PaoloBaşak, Ayşe NazlıClaeys, KristlBoztug, KaanHaimel, MatthiasW.E, GijsRuivenkamp, Claudia A.L.Natera de Benito, DanielThompson, RachelPolavarapu, KiranGrimbacher, BodoZaganas, IoannisKokosali, EvgeniaLambros, MathioudakisEvangeliou, AthanasiosSpilioti, MarthaKapaki, ElisabethBourbouli, MaraRadio, Francesca ClementinaBalicza, PeterMolnar, Maria JuditDe la Paz, Manuel PosadaSánchez, Eva BermejoDelgado, Beatriz MartínezAlonso García de la Rosa, F. 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In Genetics in Medicine April 2023 25(4)
Academic Journal
Practical Neurology. Dec2025, Vol. 25 Issue 6, p520-526. 7p.
Academic Journal
Johansson LennartLaurie SteveSpalding DylanGibson SpencerRuvolo DavidThomas ColinePiscia Davidede Andrade FernandaBeen GeriekeBijlsma MariekeBrunner HanCimerman SandiDizjikan Farid YavariEllwanger KorneliaFernandez MarcosFreeberg Malloryvan de Geijn Gert-JanKanninga RoanMaddi VatsalyaMehtarizadeh MehdiNeerincx PieterOssowski StephanRath AnaRoelofs-Prins DieuwkeStok-Benjamins Marloesvan der Velde K JoeriVeal Colinvan der Vries GerbenWadsley MarcWarren GregoryZurek BirteKeane ThomasGraessner HolmBeltran SergSwertz Morris ABrookes AnthonyRiess OlafHaack TobiasDemidov GermanSturm MarcSchulze-Hentrich Julia MSchüle RebeccaXu JishuKessler ChristophKellner MelanieSynofzik MatthisWilke CarloTraschütz AndreasSchöls LudgerHengel HolgerLerche HolgerKegele JosuaHeutink PeterScheffer HansHoogerbrugge NicolineHoischen Alexander't Hoen PeterVissers Lisenka ELMGilissen ChristianSteyaert WouterSablauskas Karolisde Voer Richarda MKamsteeg Erik-Janvan de Warrenburg Bartvan Os Nienkete Paske IrisJanssen Erikde Boer ElkeSteehouwer MarloesYaldiz BurcuKleefstra TjitskeBrookes Anthony JRiaz UmarWarren GregShorter ThomasTöpf AnaStraub VolkerBettolo Chiara MariniManera Jordi DiazHambleton SophieEngelhardt KarinClayton-Smith JillBanka SiddharthAlexander ElizabethJackson AdamFaivre LaurenceThauvin ChristelVitobello AntonioDenommé-Pichon Anne-SophieDuffourd YannisBruel Ange-LinePeyron ChristinePélissier AuroreBeltran SergiGut Ivo GlynneLaurie StevenMatalonga LesliePapakonstantinou AnastasiosBullich GemmaCorvo AlbertoFernandez-Callejo MarcosHernández CarlesPicó DanielParamonov IdaLochmüller HannsGumus GulcinBros-Facer VirginieHanauer MarcLagorce DavidHongnat OscarChahdil MarouaLebreton EmelineStevanin GiovanniDurr AlexandraDavoine Claire-SophieGuillot-Noel LénaHeinzmann AnnaCoarelli GiuliaBonne GisèleEvangelista TeresinhaAllamand ValérieNelson IsabelleYaou Rabah BenMetay CorinneEymard BrunoCohen EnzoAtalaia AntonioStojkovic TanyaMacek MilanTurnovec MarekThomasová DanaKremliková Radka PourováFranková VeraHavlovicová MarkétaLišková PetraDoležalová PavlaParkinson HelenRobinson PeterDanis DanielRobert GlennCosta AlessiaPatch ChristineHanna MikeHoulden HenryReilly MaryVandrovcova JanaEfthymiou StephanieMorsy HebaCali ElisaMagrinelli FrancescaSisodiya Sanjay MRohrer JonathanMuntoni FrancescoZaharieva IrinaSarkozy AnnaTimmerman VincentBaets Jonathande Vries GeertDe Winter JonathanBeijer Daniquede Jonghe PeterVan de Vondel LiedeweiDe Ridder WillemWeckhuysen SarahNigro VincenzoMutarelli MargheritaMorleo ManuelaPinelli MicheleVaravallo AlessandraBanfi SandroTorella AnnalauraMusacchia FrancescoPiluso GiulioFerlini AlessandraSelvatici RitaGualandi FrancescaBigoni StefaniaRossi RacheleNeri MarcellaAretz StefanSpier IsabelSommer Anna KatharinaPeters SophiaOliveira CarlaGarcia-Pelaez JoseBarbosa-Matos RitaJosé Celina SãoFerreira MartaGullo IreneFernandes SusanaGarrido LuziaFerreira PedroCarneiro Fátimavan der Velde Joeri KNeerincx Pieter BAbbott Kristin MFrederikse Wilhemina S KerstjensZonneveld-Huijssoon Evelinevan Gijn MarielleKöhler SebastianMetcalfe AlisonVerloes AlainDrunat SéverineHeron DelphineMignot CyrilKeren Borisde Sainte Agathe Jean-MadeleineRooryck CarolineLacombe DidierTrimouille AurelienDe la Paz Manuel PosadaSánchez Eva BermejoMartín Estrella LópezDelgado Beatriz Martínezde la Rosa F Javier Alonso GarcíaCiolfi AndreaDallapiccola BrunoPizzi SimoneRadio Francesca ClementinaTartaglia MarcoRenieri AlessandraFurini SimoneFallerini ChiaraBenetti ElisaBalicza PeterMolnar Maria JuditMaver AlesPeterlin BorutMünchau AlexanderLohmann KatjaHerzog RebeccaPauly MartjeMacaya AlfonsCazurro-Gutiérrez AnaPérez-Dueñas BelénMunell FrancinaJarava Clara FrancoMasó Laura BatlleMarcé-Grau AnnaColobran RogerOsorio Andrés Nascimentode Benito Daniel NateraThompson RachelPolavarapu KiranGrimbacher BodoBeeson DavidCossins JudithHackman PeterJohari MridulSavarese MarcoUdd BjarneHorvath RitaChinnery Patrick FRatnaike ThilokaGao FeiSchon KatherineCapella GabrielValle LauraHolinski-Feder ElkeLaner AndreasSteinke-Lange VerenaSchröck EvelinRump AndreasBaşak Ayşe NazlıHemelsoet DimitriDermaut BartSchuermans NikaPoppe BruceVerdin HannahMei DavideVetro AnnalisaBalestrini SimonaGuerrini RenzoClaeys KristlSantenGijs W EBijlsmaEmilia KHofferMariette J VRuivenkampClaudia A LBoztug KaanHaimel MatthiasMaystadt IsabelleCordts IsabellDeschauer MarcusZaganas IoannisKokosali EvgeniaLambros MathioudakisEvangeliou AthanasiosSpilioti MarthaKapaki ElisabethBourbouli MaraStriano PasqualeZara FedericoRiva AntonellaIacomino MicheleUva PaoloScala MarcelloScudieri PaoloCilio Maria-RobertaCarpancea EvelinaDepondt ChantalLederer DamienSznajer YvesDuerinckx SarahMary SandrineDepienne ChristelRoos AndreasMay Patrick
Gigascience
Gigascience, 13, pp. giae058
GigaScience
Solve-RD consortium, Johansson, L F, Laurie, S, Spalding, D, Gibson, S, Ruvolo, D, Thomas, C, Piscia, D, De Andrade, F, Been, G, Bijlsma, M, Brunner, H, Cimerman, S, Dizjikan, F Y, Ellwanger, K, Fernandez, M, Freeberg, M, Van De Geijn, G J, Kanninga, R, Maddi, V, Mehtarizadeh, M, Neerincx, P, Ossowski, S, Rath, A, Roelofs-Prins, D, Stok-Benjamins, M, Van Der Velde, K J, Veal, C, Van Der Vries, G, Wadsley, M, Warren, G, Zurek, B, Keane, T, Graessner, H, Beltran, S, Swertz, M A, Brookes, A J, Riess, O, Haack, T B, Demidov, G, Sturm, M, Clayton-Smith, J, Banka, S, Alexander, E, Jackson, A, Robinson, P, Costa, A, Metcalfe, A, Thompson, R, Gao, F & May, P 2024, 'An interconnected data infrastructure to support large-scale rare disease research', GigaScience, vol. 13, giae058. https://doi.org/10.1093/gigascience/giae058
Academic Journal
Demidov, GermanYaldiz, BurcuGarcia-Pelaez, Joséde Boer, ElkeSchuermans, NikaVan de Vondel, LiedeweiParamonov, IdaJohansson, Lennart F.Musacchia, FrancescoBenetti, ElisaBullich, GemmaSablauskas, KarolisBeltran, SergiGilissen, ChristianHoischen, AlexanderOssowski, Stephande Voer, RichardaLohmann, KatjaOliveira, CarlaTopf, AnaVissers, Lisenka E. L. M.null, nullRiess, OlafHaack, Tobias B.Graessner, HolmZurek, BirteEllwanger, KorneliaSturm, MarcPark, JoohyunSchütz, LeonSchulze-Hentrich, Julia M.Schüle, RebeccaXu, JishuKellner, MelanieResch, BaptistKolen, IngridSynofzik, MatthisWilke, CarloTraschütz, AndreasBeijer, DaniqueHeutink, PeterSchöls, LudgerHengel, HolgerLerche, HolgerBoßelmann, ChristianKegele, JosuaLauerer-Braun, RobertLauxmann, StephanBrunner, HanScheffer, HansHoogerbrugge, Nicoline't Hoen, Peter A. C.Steyaert, WouterKamsteeg, Erik-Janvan de Warrenburg, Bartvan Os, NienkePaske, Iris teJanssen, ErikSteehouwer, MarloesNeveling, Korneliavan der Sanden, BartSagath, LydiaKleefstra, TjitskeBrookes, Anthony J.Gibson, SpencerRiaz, UmarWarren, GregNalagandla, Sai AnuhyaWang, Yunze PatrickSukumaran, DeepthiAbadijou, SadeghStraub, VolkerBettolo, Chiara MariniManera, Jordi DiazHambleton, SophieEngelhardt, KarinClayton-Smith, JillBanka, SiddharthAlexander, ElizabethJackson, AdamFaivre, LaurenceThauvin, ChristelVitobello, AntonioDenommé-Pichon, Anne-SophieDuffourd, YannisBruel, Ange-LineCouturier, VictorGut, Ivo GlynnePiscia, DavideMatalonga, LesliePapakonstantinou, AnastasiosCorvo, AlbertoFernandez-Callejo, MarcosHernández, CarlesPicó, DanielCodina, Anna EsteveDabad, MarcGut, MartaRaineri, EmanueleGumus, GulcinBros-Facer, VirginieRath, AnaHanauer, MarcLagorce, DavidHongnat, OscarChahdil, MarouaLucano, CaterinaLebreton, EmelineStevanin, GiovanniDurr, AlexandraDavoine, Claire-SophieGuillot-Noel, LénaHeinzmann, AnnaCoarelli, GiuliaBonne, GisèleEvangelista, TeresinhaAllamand, ValérieNelson, IsabelleBen Yaou, RabahMetay, CorinneEymard, BrunoCohen, EnzoAtalaia, AntonioStojkovic, TanyaMacek, MilanTurnovec, MarekThomasová, DanaKremliková, Radka PourováFranková, VeraHavlovicová, MarkétaRyba, LukášLišková, PetraDoležalová, PavlaKrebsová, AliceParkinson, HelenKeane, ThomasFreeberg, MalloryThomas, ColineSpalding, DylanRobinson, PeterDanis, DanielRobert, GlennCosta, AlessiaHanna, MikeHoulden, HenryReilly, MaryVandrovcova, JanaEfthymiou, StephanieMorsy, HebaCali, ElisaMagrinelli, FrancescaSisodiya, Sanjay M.Bellampalli, RavishankaraMoloney, PatrickRohrer, JonathanMuntoni, FrancescoZaharieva, IrinaSarkozy, AnnaPerry, LukePini, VeronicaMüller, JulianeTimmerman, VincentBaets, Jonathande Vries, GeertDe Winter, Jonathande Jonghe, PeterDe Ridder, WillemWeckhuysen, SarahStamberger, HannahMillevert, CharissaSmal, NoorNigro, VincenzoMorleo, ManuelaPinelli, MicheleBanfi, SandroTorella, AnnalauraZeuli, RobertaZanobio, MariateresaPiluso, GiulioFerlini, AlessandraSelvatici, RitaGualandi, FrancescaBigoni, StefaniaNeri, MarcellaAretz, StefanSpier, IsabelSommer, Anna KatharinaPeters, SophiaBarbosa-Matos, RitaJosé, Celina SãoFerreira, MartaGullo, IreneFernandes, SusanaGarrido, LuziaFerreira, PedroCarneiro, FátimaSwertz, Morris A.van der Velde, Joeri K.van der Vries, GerbenNeerincx, Pieter B.Roelofs-Prins, DieuwkeRuvolo, Davidvan Gijn, MarielleAbbott, Kristin M.Kerstjens Frederikse, Wilhemina S.Zonneveld-Huijssoon, EvelineKöhler, SebastianMetcalfe, AlisonMoore, RichardVerloes, AlainDrunat, SéverineHeron, DelphineMignot, CyrilKeren, Borisde Sainte Agathe, Jean-MadeleineJamra, Rami AbouAbramowicz, MarcKiliçarslan, Özge AkselAllen, NicholasJavier Alonso García de la Rosa, FranciscoBalestrini, SimonaBalicza, PeterBartolomaeus, TobiasBaşak, Ayşe NazlMasó, Laura BatlleBeeson, DavidBenoit, ValerieBenson, KatherineSánchez, Eva BermejoBijlsma, Emilia K.Bogaert, ElkeBourbouli, MaraBoztug, KaanBrohée, SylvainByrne, SusanGarcia de Oteyza, Andrés CaballeroCapella, GabrielCarpancea, EvelinaCavalleri, GianpieroCazurro-Gutiérrez, AnaChinnery, Patrick F.Cilio, Maria-RobertaCiolfi, AndreaClaeys, KristlColobran, RogerCordts, IsabellCossins, JudithDahan, KarinDallapiccola, BrunoDelanty, NormanDepienne, ChristelDepondt, ChantalDermaut, BartDeschauer, MarcusDesir, JulieDestrée, AnneDrakos, MinasDuerinckx, SarahEstevez, BertaEvangeliou, AthanasiosFallerini, ChiaraFerilli, MarcoFurini, SimoneGagneur, JulienGhani, HamidahGreally, MarieGrimbacher, BodoGuerrini, RenzoHackman, PeterHaimel, MatthiasBouveret, Eva HammarHemelsoet, DimitriHerzog, RebeccaHoffer, Mariette J. V.Holinski-Feder, ElkeHorvath, RitaHuibers, ManonIacomino, MicheleJohari, MridulKapaki, ElisabethKaradurmus, DenizKarakaya, MertKokosali, EvgeniaKorff, ChristianKrass, LeonLacombe, DidierLaner, AndreasLeavis, HelenLederer, DamienLeitão, ElsaLochmüller, HannsMartín, Estrella LópezLuknárová, RebekaMacaya, AlfonsMalaichamy, SivasankarMarcé-Grau, AnnaDelgado, Beatriz MartínezMary, SandrineMasclaux, FrédéricMathioudakis, LambrosMaver, AlesMay, PatrickMaystadt, IsabelleMei, DavideMertes, ChristianMeunier, ColombineMolnar, Maria JuditMonestier, OlivierMoortgat, StéphanieMünchau, AlexanderMunell, FrancinaOsorio, Andrés Nascimentode Benito, Daniel NateraReghan, Mary O.Olimpio, CatarinaParrini, ElenaPauly, MartjePérez-Dueñas, BelénPeterlin, BorutPlatzer, KonradPolavarapu, KiranPoppe, BruceDe la Paz, Manuel PosadaPrivitera, FlaviaRadio, Francesca ClementinaRatnaike, ThilokaRenieri, AlessandraRiva, AntonellaRooryck, CarolineRoos, AndreasRuivenkamp, Claudia A. L.Rump, AndreasSanten, Gijs W. E.Savarese, MarcoScala, MarcelloSchon, KatherineSchröck, EvelinScudieri, PaoloSpilioti, MarthaSteinke-Lange, VerenaStriano, PasqualeSznajer, YvesTartaglia, MarcoThompson, RachelTrimouille, AurelienUdd, BjarneUva, PaoloValle, Lauravan der Veken, Larsvan Heurck, Roxanevan Montfrans, JorisVan Nieuwenhove, ErikaVerdin, HannahWebb, DavidWirth, BrunhildeYépez, Vicente A.Zaganas, IoannisZara, FedericoZguro, KristinaLaurie, Steven
NPJ Genom Med
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-24 (2024)
NPJ Genomic Medicine, 9, 1, pp. 49
NPJ genomic medicine, Vol. 9, no.1, p. 49 [1-24] (2024)
Npj genomic medicine
npj Genomic Medicine, 9(1):49
Solve-RD consortium 2024, 'Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses', NPJ Genomic Medicine, vol. 9, no. 1, 49, pp. 49. https://doi.org/10.1038/s41525-024-00436-6
Academic Journal
Yaldiz, BurcuKucuk, ErdiHampstead, JulietHofste, TomPfundt, RolphCorominas Galbany, JordiRinne, TuulaYntema, Helger G.Hoischen, AlexanderNelen, MarcelGilissen, ChristianRiess, OlafHaack, Tobias B.Graessner, HolmZurek, BirteEllwanger, KorneliaOssowski, StephanDemidov, GermanSturm, MarcSchulze-Hentrich, Julia M.Schüle, RebeccaXu, JishuKessler, ChristophWayand, MelanieSynofzik, MatthisWilke, CarloTraschütz, AndreasSchöls, LudgerHengel, HolgerLerche, HolgerKegele, JosuaHeutink, PeterBrunner, HanScheffer, HansHoogerbrugge, NicolineHoen, Peter A. C. ’tVissers, Lisenka E. L. M.Steyaert, WouterSablauskas, Karolisde Voer, Richarda M.Kamsteeg, Erik-Janvan de Warrenburg, Bartvan Os, Nienkete Paske, IrisJanssen, Erikde Boer, ElkeSteehouwer, MarloesKleefstra, TjitskeBrookes, Anthony J.Veal, ColinGibson, SpencerMaddi, VatsalyaMehtarizadeh, MehdiRiaz, UmarWarren, GregDizjikan, Farid YavariShorter, ThomasTöpf, AnaStraub, VolkerBettolo, Chiara MariniManera, Jordi DiazHambleton, SophieEngelhardt, KarinClayton-Smith, JillBanka, SiddharthAlexander, ElizabethJackson, AdamFaivre, LaurenceThauvin, ChristelVitobello, AntonioDenommé-Pichon, Anne-SophieDuffourd, YannisBruel, Ange-LinePeyron, ChristinePélissier, AuroreBeltran, SergiGut, Ivo GlynneLaurie, StevenPiscia, DavideMatalonga, LesliePapakonstantinou, AnastasiosBullich, GemmaCorvo, AlbertoFernandez-Callejo, MarcosHernández, CarlesPicó, DanielParamonov, IdaLochmüller, HannsGumus, GulcinBros-Facer, VirginieRath, AnaHanauer, MarcLagorce, DavidHongnat, OscarChahdil, MarouaLebreton, EmelineStevanin, GiovanniDurr, AlexandraDavoine, Claire-SophieGuillot-Noel, LénaHeinzmann, AnnaCoarelli, GiuliaBonne, GisèleEvangelista, TeresinhaAllamand, ValérieNelson, IsabelleYaou, Rabah BenMetay, CorinneEymard, BrunoCohen, EnzoAtalaia, AntonioStojkovic, TanyaMacek, MilanTurnovec, MarekThomasová, DanaKremliková, Radka PourováFranková, VeraHavlovicová, MarkétaLišková, PetraDoležalová, PavlaParkinson, HelenKeane, ThomasFreeberg, MalloryThomas, ColineSpalding, DylanRobinson, PeterDanis, DanielRobert, GlennCosta, AlessiaPatch, ChristineHanna, MikeHoulden, HenryReilly, MaryVandrovcova, JanaEfthymiou, StephanieMorsy, HebaCali, ElisaMagrinelli, FrancescaSisodiya, Sanjay M.Rohrer, JonathanMuntoni, FrancescoZaharieva, IrinaSarkozy, AnnaTimmerman, VincentBaets, Jonathande Vries, GeertDe Winter, JonathanBeijer, Daniquede Jonghe, PeterVan de Vondel, LiedeweiDe Ridder, WillemWeckhuysen, SarahNigro, VincenzoMutarelli, MargheritaMorleo, ManuelaPinelli, MicheleVaravallo, AlessandraBanfi, SandroTorella, AnnalauraMusacchia, FrancescoPiluso, GiulioFerlini, AlessandraSelvatici, RitaGualandi, FrancescaBigoni, StefaniaRossi, RacheleNeri, MarcellaAretz, StefanSpier, IsabelSommer, Anna KatharinaPeters, SophiaOliveira, CarlaPelaez, Jose GarciaMatos, Ana RitaJosé, Celina SãoFerreira, MartaGullo, IreneFernandes, SusanaGarrido, LuziaFerreira, PedroCarneiro, FátimaSwertz, Morris A.Johansson, Lennartvan der Velde, Joeri K.van der Vries, GerbenNeerincx, Pieter B.Ruvolo, DavidAbbott, Kristin M.Frederikse, Wilhemina SKerstjensZonneveld-Huijssoon, EvelineRoelofs-Prins, Dieuwkevan Gijn, MarielleKöhler, SebastianMetcalfe, AlisonVerloes, AlainDrunat, SéverineHeron, DelphineMignot, CyrilKeren, Borisde Sainte Agathe, Jean-MadeleineRooryck, CarolineLacombe, DidierTrimouille, AurelienDe la Paz, Manuel PosadaSánchez, Eva BermejoMartín, Estrella LópezDelgado, Beatriz Martínezde la Rosa, F. Javier Alonso GarcíaCiolfi, AndreaDallapiccola, BrunoPizzi, SimoneRadio, Francesca ClementinaTartaglia, MarcoRenieri, AlessandraFurini, SimoneFallerini, ChiaraBenetti, ElisaBalicza, PeterMolnar, Maria JuditMaver, AlesPeterlin, BorutMünchau, AlexanderLohmann, KatjaHerzog, RebeccaPauly, MartjeMacaya, AlfonsCazurro-Gutiérrez, AnaPérez-Dueñas, BelénMunell, FrancinaJarava, Clara FrancoMasó, Laura BatlleMarcé-Grau, AnnaColobran, RogerOsorio, Andrés Nascimentode Benito, Daniel NateraThompson, RachelPolavarapu, KiranGrimbacher, BodoBeeson, DavidCossins, JudithHackman, PeterJohari, MridulSavarese, MarcoUdd, BjarneHorvath, RitaChinnery, Patrick F.Ratnaike, ThilokaGao, FeiSchon, KatherineCapella, GabrielValle, LauraHolinski-Feder, ElkeLaner, AndreasSteinke-Lange, VerenaSchröck, EvelinRump, AndreasBaşak, Ayşe NazlıHemelsoet, DimitriDermaut, BartSchuermans, NikaPoppe, BruceVerdin, HannahMei, DavideVetro, AnnalisaBalestrini, SimonaGuerrini, RenzoClaeys, KristlSanten, Gijs W. E.Bijlsma, Emilia K.Hoffer, Mariette J. V.Ruivenkamp, Claudia A. L.Boztug, KaanHaimel, MatthiasMaystadt, IsabelleCordts, IsabelleDeschauer, MarcusZaganas, IoannisKokosali, EvgeniaLambros, MathioudakisEvangeliou, AthanasiosSpilioti, MarthaKapaki, ElisabethBourbouli, MaraStriano, PasqualeZara, FedericoRiva, AntonellaIacomino, MicheleUva, PaoloScala, MarcelloScudieri, PaoloCilio, Maria-RobertaCarpancea, EvelinaDepondt, ChantalLederer, DamienSznajer, YvesDuerinckx, SarahMary, SandrineDepienne, ChristelRoos, AndreasMay, Patricknull, null
Hum Genomics
Human Genomics, Vol 17, Iss 1, Pp 1-9 (2023)
Human Genomics, 17, 1, pp. 39
Human genomics
Yaldiz, B, Kucuk, E, Hampstead, J, Hofste, T, Pfundt, R, Corominas Galbany, J, Rinne, T, Yntema, H G, Hoischen, A, Nelen, M, Gilissen, C, Solve-RD consortium, Riess, O, Haack, T B, Graessner, H, Zurek, B, Ellwanger, K, Ossowski, S, Demidov, G, Sturm, M, Schulze-Hentrich, J M, Schüle, R, Xu, J, Kessler, C, Wayand, M, Synofzik, M, Wilke, C, Traschütz, A, Schöls, L, Hengel, H, Lerche, H, Kegele, J, Heutink, P, Brunner, H, Scheffer, H, Hoogerbrugge, N, Hoischen, A, Hoen, P A C, Vissers, L E L M, Gilissen, C, Steyaert, W, Sablauskas, K, de Voer, R M, Kamsteeg, E J, van de Warrenburg, B, van Os, N, te Paske, I, Janssen, E, Clayton-Smith, J, Banka, S, Jackson, A & et al. 2023, 'Twist exome capture allows for lower average sequence coverage in clinical exome sequencing', Human Genomics, vol. 17, no. 1, 39. https://doi.org/10.1186/s40246-023-00485-5
HUMAN GENOMICS
Human Genomics
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