학술논문


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'학술논문' 에서 검색결과 317건 | 목록 1~20
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, SpencerAretz, StefanBigoni, StefaniaLauxmann, StephanOssowski, StephanEfthymiou, StephanieLaurie, StevenFernandes, SusanaStojkovic, TanyaEvangelista, TeresinhaKeane, ThomasKleefstra, TjitskeHaack, Tobias B.Riaz, UmarAllamand, ValérieFranková, VeraPini, VeronicaCouturier, VictorTimmerman, VincentNigro, VincenzoBros-Facer, VirginieStraub, VolkerKerstjens Frederikse, Wilhemina S.De Ridder, WillemSteyaert, WouterDuffourd, YannisWang, Yunze PatrickMaver, AlesRenieri, AlessandraMünchau, AlexanderMacaya, AlfonsCazurro-Gutiérrez, AnaCiolfi, AndreaLaner, AndreasRoos, AndreasRump, AndreasGarcia de Oteyza, Andrés CaballeroOsorio, Andrés NascimentoMarcé-Grau, AnnaDestrée, AnneRiva, AntonellaEvangeliou, AthanasiosTrimouille, AurelienBaşak, Ayşe NazlıDermaut, BartDelgado, Beatriz MartínezPérez-Dueñas, BelénEstevez, BertaUdd, BjarneGrimbacher, BodoPeterlin, BorutPoppe, BruceWirth, BrunhildeDallapiccola, BrunoRooryck, CarolineOlimpio, CatarinaDepondt, ChantalFallerini, ChiaraDepienne, ChristelKorff, ChristianMertes, ChristianRuivenkamp, Claudia A.L.Meunier, ColombineLederer, DamienNatera de Benito, DanielBeeson, DavidWebb, DavidMei, DavideKaradurmus, DenizLacombe, DidierHemelsoet, DimitriParrini, ElenaKapaki, ElisabethBogaert, ElkeHolinski-Feder, ElkeLeitão, ElsaBijlsma, Emilia K.Van Nieuwenhove, ErikaMartín, Estrella LópezSánchez, Eva BermejoBouveret, Eva HammarSchröck, EvelinCarpancea, EvelinaKokosali, EvgeniaZara, FedericoPrivitera, FlaviaRadio, Francesca ClementinaMunell, FrancinaAlonso García de la Rosa, Francisco JavierMasclaux, FrédéricCapella, GabrielCavalleri, GianpieroSanten, Gijs W.E.Ghani, HamidahVerdin, HannahLochmüller, HannsLeavis, HelenZaganas, IoannisCordts, IsabellMaystadt, Isabellevan Montfrans, JorisCossins, JudithDesir, JulieGagneur, JulienBoztug, KaanDahan, KarinBenson, KatherineSchon, KatherineLohmann, KatjaPolavarapu, KiranPlatzer, KonradZguro, KristinaClaeys, KristlMathioudakis, Lambrosvan der Veken, LarsMasó, Laura BatlleValle, LauraKrass, LeonHuibers, 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
Conference
2017 IEEE Workshop on Visual Analytics in Healthcare (VAHC) Visual Analytics in Healthcare (VAHC), 2017 IEEE Workshop on. :77-83 Oct, 2017
Conference
2017 IEEE Workshop on Visual Analytics in Healthcare (VAHC) Visual Analytics in Healthcare (VAHC), 2017 IEEE Workshop on. :39-46 Oct, 2017
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
Matalonga, LeslieHernández-Ferrer, CarlesDITF-ITHACA, Solve-RDVerloes, AlainVissers, LisenkaVitobello, AntonioVotypka, PavelVyshka, KleaZurek, BirteBaets, JonathanBeijer, DaniqueBonne, GisèleCohen, EnzoDITF-euroNMD, Solve-RDCossins, JudithEvangelista, TeresinhaFerlini, AlessandraHackman, PeterHanna, Michael GHorvath, RitaHoulden, HenryJohari, MridulLau, JarredLochmüller, HannsDITF-RND, Solve-RDMacken, William LMusacchia, FrancescoNascimento, AndresNatera-de Benito, DanielNigro, VincenzoPiluso, GiulioPini, VeronicaPitceathly, Robert D SPolavarapu, KiranCruz, Pedro M RodriguezTonda, RaulSarkozy, AnnaSavarese, MarcoSelvatici, RitaThompson, RachelUdd, BjarneVan de Vondel, LiedeweiVandrovcova, JanaZaharieva, IrinaBalicza, PeterLaurie, StevenChinnery, PatrickDürr, AlexandraHaack, TobiasHengel, HolgerKamsteeg, Erik-JanKamsteeg, ChristophLohmann, KatjaMacaya, AlfonsMarcé-Grau, AnnaFernandez-Callejo, MarcosMaver, AlesMolnar, JuditMünchau, AlexanderPeterlin, BorutRiess, OlafSchöls, LudgerSchüle-Freyer, RebeccaStevanin, GiovanniSynofzik, MatthisTimmerman, VincentPicó, Danielvan de Warrenburg, Bartvan Os, NienkeWayand, MelanieWilke, CarloHaack, Tobias BGraessner, HolmEllwanger, KorneliaOssowski, StephanDemidov, GermanGarcia-Linares, CarlesSturm, MarcSchulze-Hentrich, Julia MSchüle, RebeccaKessler, ChristophHeutink, PeterBrunner, HanScheffer, HansPapakonstantinou, AnastasiosHoogerbrugge, Nicoline't Hoen, Peter A CSteyaert, WouterSablauskas, KarolisTe Paske, IrisJanssen, ErikSteehouwer, MarloesYaldiz, BurcuCorvó, AlbertoBrookes, Anthony JVeal, ColinGibson, SpencerWadsley, MarcMehtarizadeh, MehdiRiaz, UmarWarren, GregDizjikan, Farid YavariShorter, ThomasStraub, VolkerPiscia, DavideJoshi, RickyBettolo, Chiara MariniSpecht, SabineClayton-Smith, JillBanka, SiddharthAlexander, ElizabethJackson, AdamFaivre, LaurenceThauvin, ChristelDuffourd, YannisTisserant, EmilieDiez, HectorBruel, Ange-LinePeyron, ChristinePélissier, AuroreBeltran, SergiGut, Ivo GlynneBullich, GemmaGut, IvoCorvo, AlbertoGarcia, CarlesHernández, CarlesParamonov, IdaGumus, GulcinBros-Facer, VirginieRath, AnaHoischen, AlexanderHanauer, MarcOlry, AnnieLagorce, DavidHavrylenko, SvitlanaIzem, KatiaRigour, FannyDurr, AlexandraDavoine, Claire-SophieGuillot-Noel, LénaHeinzmann, AnnaCoarelli, GiuliaAllamand, ValérieNelson, IsabelleYaou, Rabah BenMetay, CorinneEymard, BrunoAtalaia, AntonioStojkovic, TanyaMacek, MilanTurnovec, MarekThomasová, DanaKremliková, Radka PourováFranková, VeraHavlovicová, MarkétaKremlik, VlastimilParkinson, HelenKeane, ThomasConsortium, Solve-RDSpalding, DylanSenf, AlexanderDanis, DanielRobert, GlennCosta, AlessiaPatch, ChristineHanna, MikeReilly, MaryMuntoni, Francescode Jonghe, PeterBanfi, SandroTorella, AnnalauraCuesta, IsabelRossi, RacheleNeri, MarcellaAretz, StefanSpier, IsabelPeters, SophiaOliveira, CarlaPelaez, Jose GarciaMatos, Ana RitaJosé, Celina SãoFerreira, MartaGullo, IreneFernandes, SusanaGarrido, LuziaFerreira, PedroCarneiro, FátimaSwertz, Morris AJohansson, Lennartvan der Vries, GerbenNeerincx, Pieter Bgroup, Solve-RD SNV-indel workingDenommé-Pichon, Anne-SophieRoelofs-Prins, DieuwkeKöhler, SebastianMetcalfe, AlisonRooryck, CarolineTrimouille, AurelienCastello, RaffaeleMorleo, ManuelaVaravallo, AlessandraDe la Paz, Manuel PosadaSánchez, Eva BermejoMartín, Estrella LópezDelgado, Beatriz Martínezde la Rosa, F Javier Alonso GarcíaRadio, Francesca ClementinaTartaglia, MarcoRenieri, AlessandraBenetti, ElisaMolnar, Maria JuditGilissen, ChristianHerzog, RebeccaPauly, MartjeOsorio, Andres Nascimientode Benito, Daniel NateraBeeson, DavidCapella, GabrielValle, LauraHolinski-Feder, ElkeLaner, AndreasSteinke-Lange, VerenaSchröck, EvelinRump, AndreasLi, ShuangPrasanth, SivakumarRobinson, Petervan der Velde, Joeri Kde Voer, Richarda MEvans, GarethSommer, Anna KatharinaTöpf, AnaPaske, Iris TeTischkowitz, MarcCasari, GiorgioCiolfi, AndreaDallapiccola, Brunode Boer, ElkeVissers, Lisenka E L MHammarsjö, AnnaHavlovicova, MarketaHugon, Annede Voer, RichardaKleefstra, TjitskeLindstrand, AnnaLópez-Martín, EstrellaNigro, VicenzoNordgren, AnnPettersson, MariaPinelli, MichelePizzi, SimoneDITF-GENTURIS, Solve-RDPosada, ManuelRyba, LukasSchwarz, MartinTrimouille, Aurélien
European journal of human genetics 29(9), 1466-1469 (2021). doi:10.1038/s41431-021-00934-6
Solve-RD SNV-indel working group, Solve-RD DITF-GENTURIS, Solve-RD DITF-ITHACA, Solve-RD DITF-euroNMD, Solve-RD-DITF-RND & The Solve-RD Consortium 2021, 'Correction to : Solving patients with rare diseases through programmatic reanalysis of genome-phenome data ', European Journal of Human Genetics, vol. 29, no. 9, pp. 1466-1469. https://doi.org/10.1038/s41431-021-00934-6
Academic Journal
Birte ZurekKornelia EllwangerLisenka E. L. M. VissersRebecca SchüleMatthis SynofzikAna TöpfRicharda M. de VoerSteven LaurieLeslie MatalongaChristian GilissenStephan OssowskiPeter A. C. ’t HoenAntonio VitobelloJulia M. Schulze-HentrichOlaf RiessHan G. BrunnerAnthony J. BrookesAna RathGisèle BonneGulcin GumusAlain VerloesNicoline HoogerbruggeTeresinha EvangelistaTina HarmuthMorris SwertzDylan SpaldingAlexander HoischenSergi BeltranHolm GraessnerTobias B. HaackGerman DemidovMarc SturmChristoph KesslerMelanie WayandCarlo WilkeAndreas TraschützLudger SchölsHolger HengelPeter HeutinkHan BrunnerHans SchefferWouter SteyaertKarolis SablauskasErik-Jan KamsteegBart van de WarrenburgNienke van OsIris te PaskeErik JanssenElke de BoerMarloes SteehouwerBurcu YaldizTjitske KleefstraColin VealSpencer GibsonMarc WadsleyMehdi MehtarizadehUmar RiazGreg WarrenFarid Yavari DizjikanThomas ShorterVolker StraubChiara Marini BettoloSabine SpechtJill Clayton-SmithSiddharth BankaElizabeth AlexanderAdam JacksonLaurence FaivreChristel ThauvinAnne-Sophie Denommé-PichonYannis DuffourdEmilie TisserantAnge-Line BruelChristine PeyronAurore PélissierIvo Glynne GutDavide PisciaAnastasios PapakonstantinouGemma BullichAlberto CorvoCarles GarciaMarcos Fernandez-CallejoCarles HernándezDaniel PicóIda ParamonovHanns LochmüllerVirginie Bros-FacerMarc HanauerAnnie OlryDavid LagorceSvitlana HavrylenkoKatia IzemFanny RigourGiovanni StevaninAlexandra DurrClaire-Sophie DavoineLéna Guillot-NoelAnna HeinzmannGiulia CoarelliValérie AllamandIsabelle NelsonRabah Ben YaouCorinne MetayBruno EymardEnzo CohenAntonio AtalaiaTanya StojkovicMilan MacekMarek TurnovecDana ThomasováRadka Pourová KremlikováVera FrankováMarkéta HavlovicováVlastimil KremlikHelen ParkinsonThomas KeaneAlexander SenfPeter RobinsonDaniel DanisGlenn RobertAlessia CostaChristine PatchMike HannaHenry HouldenMary ReillyJana VandrovcovaFrancesco MuntoniIrina ZaharievaAnna SarkozyVincent TimmermanJonathan BaetsLiedewei Van de VondelDanique BeijerPeter de JongheVincenzo NigroSandro BanfiAnnalaura TorellaFrancesco MusacchiaGiulio PilusoAlessandra FerliniRita SelvaticiRachele RossiMarcella NeriStefan AretzIsabel SpierAnna Katharina SommerSophia PetersCarla OliveiraJose Garcia PelaezAna Rita MatosCelina São JoséMarta FerreiraIrene GulloSusana FernandesLuzia GarridoPedro FerreiraFátima CarneiroMorris A. SwertzLennart JohanssonJoeri K. van der VeldeGerben van der VriesPieter B. NeerincxDieuwke Roelofs-PrinsSebastian KöhlerAlison MetcalfeSéverine DrunatCaroline RooryckAurelien TrimouilleRaffaele CastelloManuela MorleoMichele PinelliAlessandra VaravalloManuel Posada De la PazEva Bermejo SánchezEstrella López MartínBeatriz Martínez DelgadoF. Javier Alonso García de la RosaAndrea CiolfiBruno DallapiccolaSimone PizziFrancesca Clementina RadioMarco TartagliaAlessandra RenieriElisa BenettiPeter BaliczaMaria Judit MolnarAles MaverBorut PeterlinAlexander MünchauKatja LohmannRebecca HerzogMartje PaulyAlfons MacayaAnna Marcé-GrauAndres Nascimiento OsorioDaniel Natera de BenitoRachel ThompsonKiran PolavarapuDavid BeesonJudith CossinsPedro M. Rodriguez CruzPeter HackmanMridul JohariMarco SavareseBjarne UddRita HorvathGabriel CapellaLaura ValleElke Holinski-FederAndreas LanerVerena Steinke-LangeEvelin SchröckAndreas Rump
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European Journal of Human Genetics
European journal of human genetics 29(9), 1325-1331 (2021). doi:10.1038/s41431-021-00859-0
European Journal of Human Genetics, 29, 9, pp. 1325-1331
Solve-RD consortium 2021, 'Solve-RD : systematic pan-European data sharing and collaborative analysis to solve rare diseases', European Journal of Human Genetics, vol. 29, no. 9, pp. 1325-1331. https://doi.org/10.1038/s41431-021-00859-0
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Eur J Hum Genet
Repisalud
Instituto de Salud Carlos III (ISCIII)
European journal of human genetics 29(9), 1337-1347 (2021). doi:10.1038/s41431-021-00852-7
European Journal of Human Genetics, 29, 9, pp. 1337-1347
European journal of human genetics
Conference
2012 IEEE Nuclear Science Symposium and Medical Imaging Conference Record (NSS/MIC) Nuclear Science Symposium and Medical Imaging Conference (NSS/MIC), 2012 IEEE. :2024-2029 Oct, 2012
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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
Schüle, RebeccaTimmann, DagmarErasmus, Corrie E.Reichbauer, JenniferWayand, Melanienull, nullBaets, JonathanBalicza, PeterChinnery, PatrickDürr, AlexandraHaack, TobiasHengel, HolgerHorvath, RitaHoulden, HenryKamsteeg, Erik-JanKamsteeg, ChristophLohmann, KatjaMacaya, AlfonsMarcé-Grau, AnnaMaver, AlesMolnar, JuditMünchau, AlexanderPeterlin, BorutRiess, OlafSchöls, LudgerStevanin, GiovanniSynofzik, MatthisTimmerman, Vincentvan de Warrenburg, Bartvan Os, NienkeVandrovcova, JanaWilke, CarloBevot, AndreaZuchner, StephanBeltran, SergiLaurie, StevenMatalonga, LeslieGraessner, HolmZurek, BirteEllwanger, KorneliaOssowski, StephanDemidov, GermanSturm, MarcSchulze-Hentrich, Julia M.Heutink, PeterBrunner, HanScheffer, HansHoogerbrugge, NicolineHoischen, Alexander't Hoen, Peter A. C.Vissers, Lisenka E. L. M.Gilissen, ChristianSteyaert, WouterSablauskas, Karolisde Voer, Richarda M.Janssen, Erikde Boer, ElkeSteehouwer, MarloesYaldiz, BurcuKleefstra, TjitskeBrookes, Anthony J.Veal, ColinGibson, SpencerWadsley, MarcMehtarizadeh, MehdiRiaz, UmarWarren, GregDizjikan, Farid YavariShorter, ThomasTöpf, AnaStraub, VolkerBettolo, Chiara MariniSpecht, SabineClayton-Smith, JillBanka, SiddharthAlexander, ElizabethJackson, AdamFaivre, LaurenceThauvin, ChristelVitobello, AntonioDenommé-Pichon, Anne-SophieDuffourd, YannisTisserant, EmilieBruel, Ange-LinePeyron, ChristinePélissier, AuroreGut, Ivo GlynnePiscia, DavidePapakonstantinou, AnastasiosBullich, GemmaCorvo, AlbertoGarcia, CarlesFernandez-Callejo, MarcosHernández, CarlesPicó, DanielParamonov, IdaLochmüller, HannsGumus, GulcinBros-Facer, VirginieRath, AnaHanauer, MarcOlry, AnnieLagorce, DavidHavrylenko, SvitlanaIzem, KatiaRigour, FannyDurr, AlexandraDavoine, Claire-SophieGuillot-Noel, LénaHeinzmann, AnnaCoarelli, GiuliaBonne, GisèleEvangelista, TeresinhaAllamand, ValérieNelson, IsabelleYaou, Rabah BenMetay, CorinneEymard, BrunoCohen, EnzoAtalaia, AntonioStojkovic, TanyaMacek, MilanTurnovec, MarekThomasová, DanaKremliková, Radka PourováFranková, VeraHavlovicová, MarkétaKremlik, VlastimilParkinson, HelenKeane, ThomasSpalding, DylanSenf, AlexanderRobinson, PeterDanis, DanielRobert, GlennCosta, AlessiaPatch, ChristineHanna, MikeReilly, MaryMuntoni, FrancescoZaharieva, IrinaSarkozy, Annade Jonghe, PeterNigro, VincenzoBanfi, SandroTorella, AnnalauraMusacchia, FrancescoPiluso, GiulioFerlini, AlessandraSelvatici, RitaRossi, 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.Roelofs-Prins, DieuwkeKöhler, SebastianMetcalfe, AlisonVerloes, AlainDrunat, SéverineRooryck, CarolineTrimouille, AurelienCastello, RaffaeleMorleo, ManuelaPinelli, MicheleVaravallo, AlessandraDe la Paz, Manuel PosadaSánchez, Eva BermejoMartín, Estrella LópezDelgado, Beatriz Martínezde la Rosa, F. Javier Alonso GarcíaCiolfi, AndreaDallapiccola, BrunoPizzi, SimoneRadio, Francesca ClementinaTartaglia, MarcoRenieri, AlessandraBenetti, ElisaMolnar, Maria JuditHerzog, RebeccaPauly, MartjeOsorio, Andres Nascimientode Benito, Daniel NateraThompson, RachelPolavarapu, KiranBeeson, DavidCossins, JudithCruz, Pedro M. RodriguezHackman, PeterJohari, MridulSavarese, MarcoUdd, BjarneCapella, GabrielValle, LauraHolinski-Feder, ElkeLaner, AndreasSteinke-Lange, VerenaSchröck, EvelinRump, Andreas
Eur J Hum Genet
European journal of human genetics 29(9), 1332-1336 (2021). doi:10.1038/s41431-021-00901-1
European Journal of Human Genetics, 29, 9, pp. 1332-1336
Solve-RD-DITF-RND & The Solve-RD Consortium 2021, 'Solving unsolved rare neurological diseases—a Solve-RD viewpoint', European Journal of Human Genetics, vol. 29, no. 9, pp. 1332-1336. https://doi.org/10.1038/s41431-021-00901-1
European journal of human genetics
Conference
2012 IEEE Nuclear Science Symposium and Medical Imaging Conference Record (NSS/MIC) Nuclear Science Symposium and Medical Imaging Conference (NSS/MIC), 2012 IEEE. :972-974 Oct, 2012
Conference
2012 IEEE Nuclear Science Symposium and Medical Imaging Conference Record (NSS/MIC) Nuclear Science Symposium and Medical Imaging Conference (NSS/MIC), 2012 IEEE. :975-977 Oct, 2012
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
Academic Journal
Zurek, BirteEllwanger, KorneliaOssowski, StephanHavrylenko, SvitlanaIzem, KatiaRigour, FannyStevanin, GiovanniDurr, AlexandraDavoine, Claire-SophieGuillot-Noel, LénaHeinzmann, AnnaCoarelli, GiuliaAllamand, Valérie't Hoen, Peter A CNelson, IsabelleYaou, Rabah BenMetay, CorinneEymard, BrunoCohen, EnzoAtalaia, AntonioStojkovic, TanyaMacek, MilanTurnovec, MarekThomasová, DanaVitobello, AntonioKremliková, Radka PourováFranková, VeraHavlovicová, MarkétaKremlik, VlastimilParkinson, HelenKeane, ThomasSenf, AlexanderRobinson, PeterDanis, DanielRobert, GlennSchulze-Hentrich, Julia MCosta, AlessiaPatch, ChristineHanna, MikeHoulden, HenryReilly, MaryVandrovcova, JanaMuntoni, FrancescoZaharieva, IrinaSarkozy, AnnaTimmerman, VincentRiess, OlafBaets, JonathanVan de Vondel, LiedeweiBeijer, Daniquede Jonghe, PeterNigro, VincenzoBanfi, SandroTorella, AnnalauraMusacchia, FrancescoPiluso, GiulioFerlini, AlessandraBrunner, Han GSelvatici, RitaRossi, RacheleNeri, MarcellaAretz, StefanSpier, IsabelSommer, Anna KatharinaPeters, SophiaOliveira, CarlaPelaez, Jose GarciaMatos, Ana RitaBrookes, Anthony JJosé, Celina SãoFerreira, MartaGullo, IreneFernandes, SusanaGarrido, LuziaFerreira, PedroCarneiro, FátimaSwertz, Morris AJohansson, Lennartvan der Velde, Joeri KRath, Anavan der Vries, GerbenNeerincx, Pieter BRoelofs-Prins, DieuwkeKöhler, SebastianMetcalfe, AlisonVerloes, AlainDrunat, SéverineRooryck, CarolineTrimouille, AurelienCastello, RaffaeleBonne, GisèleMorleo, ManuelaPinelli, MicheleVaravallo, AlessandraDe la Paz, Manuel PosadaSánchez, Eva BermejoMartín, Estrella LópezDelgado, Beatriz Martínezde la Rosa, F Javier Alonso GarcíaCiolfi, AndreaDallapiccola, BrunoGumus, GulcinPizzi, SimoneRadio, Francesca ClementinaTartaglia, MarcoRenieri, AlessandraBenetti, ElisaBalicza, PeterMolnar, Maria JuditMaver, AlesPeterlin, BorutMünchau, AlexanderVissers, Lisenka E L MLohmann, KatjaHerzog, RebeccaPauly, MartjeMacaya, AlfonsMarcé-Grau, AnnaOsorio, Andres Nascimientode Benito, Daniel NateraLochmüller, HannsThompson, RachelPolavarapu, KiranHoogerbrugge, NicolineBeeson, DavidCossins, JudithCruz, Pedro M RodriguezHackman, PeterJohari, MridulSavarese, MarcoUdd, BjarneHorvath, RitaCapella, GabrielValle, LauraEvangelista, TeresinhaHolinski-Feder, ElkeLaner, AndreasSteinke-Lange, VerenaSchröck, EvelinRump, AndreasHarmuth, TinaSwertz, MorrisSpalding, DylanHoischen, AlexanderBeltran, SergiGraessner, Holmconsortium, Solve-RDSchüle-Freyer, RebeccaHaack, Tobias BDemidov, GermanSturm, MarcKessler, ChristophWayand, MelanieWilke, CarloTraschütz, AndreasSynofzik, MatthisSchöls, LudgerHengel, HolgerHeutink, PeterBrunner, HanScheffer, HansSteyaert, WouterSablauskas, Karolisde Voer, Richarda MKamsteeg, Erik-Janvan de Warrenburg, BartTöpf, Anavan Os, NienkeTe Paske, IrisJanssen, Erikde Boer, ElkeSteehouwer, MarloesYaldiz, BurcuKleefstra, TjitskeVeal, ColinGibson, SpencerWadsley, MarcMehtarizadeh, MehdiRiaz, UmarWarren, GregDizjikan, Farid YavariShorter, ThomasStraub, VolkerBettolo, Chiara MariniSpecht, SabineClayton-Smith, JillBanka, SiddharthLaurie, StevenAlexander, ElizabethJackson, AdamFaivre, LaurenceThauvin, ChristelDenommé-Pichon, Anne-SophieDuffourd, YannisTisserant, EmilieBruel, Ange-LinePeyron, ChristineMatalonga, LesliePélissier, AuroreGut, Ivo GlynnePiscia, DavidePapakonstantinou, AnastasiosBullich, GemmaCorvo, AlbertoGarcia, CarlesGilissen, ChristianFernandez-Callejo, MarcosHernández, CarlesPicó, DanielParamonov, IdaBros-Facer, VirginieHanauer, MarcOlry, AnnieLagorce, David
European journal of human genetics 29(9), 1459-1461 (2021). doi:10.1038/s41431-021-00936-4
Academic Journal
Accornero, StefanoAghemo, AlessioAli, HussamAngelini, ClaudioArcari, IvanArosio, PaolaAzzolini, ElenaBaccarin, AlessandraBadalamenti, SalvatoreBaggio, SaraBarbagallo, MichelaBarberi, CaterinaBarbic, FrancaBarbieri, VivianaBarbone, AlessandroBasciu, AlessioBocciolone, MonicaBorea, FedericaBorroni, MarioBresciani, GianluigiBrunetta, EnricoBulletti, CinziaCadonati, CristinaCalabro', LorenzoCalatroni, MartaCalvetta Albania, AntoniettaCannata, FrancescoCanziani, LorenzoCapretti Giovanni, LuigiCarlani, ElisaCarrone, FlaminiaCasana, MaddalenaCecconi, MaurizioCeriotti, CarloCiccarelli, MicheleCimino, MatteoCiuffini, LeonardoColaizzi, ChiaraColapietro, FrancescaCosta, GuidoCozzi, OttaviaCraviotto, VincenzoCrespi, ChiaraCrippa, MassimoDa Rio, LeonardoDal Farra, SaraD'Antonio, FedericaDe Ambroggi, GuidoDe Donato, MassimoDe Lucia, FrancescaDe Santis, MariaDelle Rose, GiacomoDi Pilla, MarinaDipaola, FrancaDipasquale, AndreaDipasquale, AngeloDroandi, GinevraFazio, RobertaFerrante, GiuseppeFerrara Elisa, ChiaraFerrari Matteo, CarloFerri, SebastianFolci, MarcoForesti, SaraFranchi, EloisaFraolini, EliaFugazza, AlessandroFurfaro, FedericaGalimberti, PaolaGaltieri Alessia, PieraGavazzi, FrancescaGenerali, ElenaGoletti, BenedettaGuidelli, GiacomoJacobs, FlaviaKurihara, HayatoLagioia, MicheleLibre', LucaLleo, AnaLoiacono, FerdinandoLughezzani, GiovanniMaccallini, MartaMaiorino Alfonso, FrancescoMalesci, AlbertoMantovani, RiccardoMarchettini, DavideMarinello, AriannaMarkopoulos, NikolaosMasetti, ChiaraMilani, AngeloMirani, MarcoMorelli, PaolaMotta, FrancescaMundula, ValeriaNigro, MattiaOmodei, PaoloOrmas, MonicaPagliaro, AriannaPaliotti, RobertaParigi Tommaso, LorenzoPedale, RosaPegoraro, FrancescoPellegatta, GaiaPellegrino, MartaPetriello, GennaroPiccini, SaraPocaterra, DariaPoliani, LauraPreatoni, PaolettaProcopio, FabioPuggioni, FrancescaPugliese, LucaRacca, FrancescaRandazzo, MicheleRegazzoli Lancini, DamianoReggiani, FrancescoRodolfi, StefanoRuongo, LidiaSacco, ClaraSandri Maria, TeresaSavi, MarziaScarfo', IsideShiffer, DanaSicoli, FedericoSolano, SimoneSolitano, VirginiaStainer, AnnaStella Matteo, CarloStrangio, GiuseppeTaormina, AntonioTestoni, LuciaTordato, FedericaTrabucco, AngelaUlian, LuisaValentino, RossellaValeriano, ChiaraVena, WalterVerlingieri, SimonaVespa, EdoardoVoza, AntonioZanuso, ValentinaZilli, AlessandraAnfray, ClementBelgiovine, CristinaBertocchi, AliceBombace, SaraBrescia, PaolaCalcaterra, FrancescaCalvi, MichelaCancellara, AssuntaCapucetti, AriannaCarenza, ClaudiaCarloni, SaraCarnevale, SilviaCazzetta, ValentinaCoianiz, NicolòDarwich, AbbassDavoudian, SadafDe Paoli, FedericaDi Donato, RacheleDigifico, ElisabethDurante, BarbaraFarina Floriana, MariaFerrari, ValentinaFornasa, GiuliaFranzese, SaraGhasemi, SomayehsadatGil Gomez, AntonioGiugliano, SilviaGomes Ana, RitaLizier, MichelaLo Cascio, AntoninoMelacarne, AlessiaMozzarelli, AlessandroMy, IlariaOresta, BiancaPasqualini, FabioPastò, AnnaPelamatti, EricaPerucchini, ChiaraPozzi, ChiaraRimoldi, ValeriaRimoldi, MonicaScarpa, AliceScavello, FrancescoSilvestri, AlessandraSironi, MarinaSpadoni, IlariaSpano', SalvatoreSpata, GianmarcoSupino, DomenicoTentorio, PaoloUmmarino, AldoValentino, SoniaZaghi, ElisaZanon, VeronicaMapelli, Sarah N.Nappi, EmanueleGarcía Martín, Ian DavidLeone, RobertoAngelotti, GiovanniZhong, HangMagrini, ElenaStravalaci, MatteoProtti, AlessandroSantini, AlessandroCostantini, ElenaSavevski, VictorBottazzi, BarbaraBartoletti, MicheleMantovani, AlbertoGarlanda, Cecilia
In eBioMedicine July 2024 105
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