학술논문


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발행년
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(예 : 2010-2015)
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'학술논문' 에서 검색결과 258건 | 목록 1~20
Academic Journal
M’Zahem, AbderrahimGoldenberg, AliceBolocan, AnamariaGerdelat, AngéliqueHeinzmann, AnnaGrapperon, Aude-MarieRiou, AudreyCarlander, BertrandChabrol, BrigitteSimon-Bouy, BrigitteMoulard, BrunoTaris, Caroline EspilGire, CatherinevanHulle, CatherineYardin, CatherineThauvin-Robinet, ChristelCoubes, ChristineDe Barace, ClaireDesnuelles, ClaudeMignard, ClaudeAdams, DavidDoummar, DianeBaudou, EloïseRoze, EmmanuelBoutin, EmmanuelleDemurger, FlorenceAudic, FrédériquePayet, FrédériqueNicolas, GaëlSole, GuilhemTaieb, GuillaumeChaabouni, HabibaRanjatoelina, HanitraIon, IoanaPouget, JeanPedespan, Jean-MichelN’Guyen, Karinevan Maldergem, LionelGuyant-Maréchal, LucieJacquemont, Marie-LineMonin, Marie-LorraineHardy, MaximeCintas, PascalSabouraud, PascalAubourg, PatrickCalvas, PatrickCollignon, PatrickCasenave, PhilippeDebs, RababThummler, SusanneFenu, SylviaStojkovic, TanjaRouaud, TiphaineGioiosa, ValeriaTrommsdorff, ValérieGonzales, VictoriaFerrer, XavierMatoussi, ZiedBenkirane, MehdiMarelli, CeciliaChoumert, ArianeGoizet, CyrilPatat, OlivierEwenczyk, ClaireAnheim, MathieuMégarbané, AndréLarrieu, LiseCharlin, CyrilOry-Magne, FabienneChaussenot, AnnabelleFradin, MélanieGuissart, ClairePointaux, MorganeCossée, MireilleVincent, Marie-ClaireBergougnoux, AnneHersent, ClémentBareil, CorinneRoubertie, AgatheFluchère, FrédériqueRenaud, MathildeKremer, LaurentTranchant, ChristineAttarian, ShahramOdent, SylvieLaugel, VincentWalther-Louvier, UlrikeDesnous, BeatriceBieth, EricHusson, IsabelleAzulay, Jean PhillipeRivier, FrançoisDoray, BéréniceDurr, AlexandraAouinti, SafaMolinari, NicolasKoenig, Michel
In Genetics in Medicine December 2025 27(12)
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
Academic Journal
The American journal of human genetics 110(7), 1098-1109 (2023). doi:10.1016/j.ajhg.2023.05.009
American Journal of Human Genetics, 110, 7, pp. 1098-1109
The American Journal of Human Genetics
Academic Journal
Ambrose, J.C.Arumugam, P.Bevers, R.Bleda, M.Boardman-Pretty, F.Boustred, C.R.Brittain, H.Brown, M.A.Caulfield, M.J.Chan, G.C.Giess, A.Griffin, J.N.Hamblin, A.Henderson, S.Hubbard, T.J.P.Jackson, R.Jones, L.J.Kasperaviciute, D.Kayikci, M.Kousathanas, A.Lahnstein, L.Lakey, A.Leigh, S.E.A.Leong, I.U.S.Lopez, F.J.Maleady-Crowe, F.McEntagart, M.Minneci, F.Mitchell, J.Moutsianas, L.Mueller, M.Murugaesu, N.Need, A.C.O‘Donovan, P.Odhams, C.A.Patch, C.Perez-Gil, D.Pereira, M.B.Pullinger, J.Rahim, T.Rendon, A.Rogers, T.Savage, K.Sawant, K.Scott, R.H.Siddiq, A.Sieghart, A.Smith, S.C.Sosinsky, A.Stuckey, A.Tanguy, M.Taylor Tavares, A.L.Thomas, E.R.A.Thompson, S.R.Tucci, A.Welland, M.J.Williams, E.Witkowska, K.Wood, S.M.Zarowiecki, M.Riess, OlafHaack, Tobias B.Graessner, HolmZurek, BirteEllwanger, KorneliaOssowski, StephanDemidov, GermanSturm, MarcSchulze-Hentrich, Julia M.Schüle, RebeccaKessler, ChristophWayand, MelanieSynofzik, MatthisWilke, CarloTraschütz, AndreasSchöls, LudgerHengel, HolgerHeutink, PeterBrunner, HanScheffer, HansHoogerbrugge, NicolineHoischen, Alexander’t Hoen, Peter A.C.Vissers, Lisenka E.L.M.Gilissen, ChristianSteyaert, WouterSablauskas, Karolisde Voer, Richarda M.Kamsteeg, Erik-Janvan de Warrenburg, Bartvan Os, NienkePaske, Iris teJanssen, 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, AuroreBeltran, SergiGut, Ivo GlynneLaurie, StevenPiscia, DavideMatalonga, LesliePapakonstantinou, AnastasiosBullich, GemmaCorvo, AlbertoGarcia, CarlesFernandez-Callejo, MarcosHernández, CarlesPicó, DanielParamonov, IdaLochmüller, HannsGumus, GulcinBros-Facer, VirginieRath, AnaHanauer, MarcOlry, AnnieLagorce, DavidHavrylenko, SvitlanaIzem, KatiaRigour, FannyStevanin, GiovanniDurr, AlexandraDavoine, Claire-SophieGuillot-Noel, LénaHeinzmann, AnnaCoarelli, GiuliaBonne, GisèleEvangelista, TeresinhaAllamand, ValérieNelson, IsabelleBen Yaou, RabahMetay, CorinneEymard, BrunoCohen, EnzoAtalaia, AntonioStojkovic, TanyaMacek, Milan, Jr.Turnovec, MarekThomasová, DanaKremliková, Radka PourováFranková, VeraHavlovicová, MarkétaKremlik, VlastimilParkinson, HelenKeane, ThomasSpalding, DylanSenf, AlexanderRobinson, PeterDanis, DanielRobert, GlennCosta, AlessiaPatch, ChristineHanna, MikeHoulden, HenryReilly, MaryVandrovcova, JanaMuntoni, FrancescoZaharieva, IrinaSarkozy, AnnaTimmerman, VincentBaets, JonathanVan de Vondel, LiedeweiBeijer, Daniquede 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 MartínezAlonso García de la Rosa, F. JavierCiolfi, AndreaDallapiccola, BrunoPizzi, SimoneRadio, Francesca ClementinaTartaglia, MarcoRenieri, AlessandraBenetti, ElisaBalicza, PeterMolnar, Maria JuditMaver, AlesPeterlin, BorutMünchau, AlexanderLohmann, KatjaHerzog, RebeccaPauly, MartjeMacaya, AlfonsMarcé-Grau, AnnaOsorio, Andres NascimientoNatera de Benito, DanielThompson, RachelPolavarapu, KiranBeeson, DavidCossins, JudithRodriguez Cruz, Pedro M.Hackman, PeterJohari, MridulSavarese, MarcoUdd, BjarneHorvath, RitaCapella, GabrielValle, LauraHolinski-Feder, ElkeLaner, AndreasSteinke-Lange, VerenaSchröck, EvelinRump, AndreasLin, Sheng-JiaJones, Elizabeth A.Chandler, Kate E.Orr, DavidMoss, CeliaHaider, ZahraRyan, GavinHolden, SimonHarrison, MikeBurrows, NigelJones, Wendy D.Loveless, MaryPetree, CassidyStewart, HelenLow, KarenDonnelly, DeirdreLovell, SimonDrosou, KonstantinaVarshney, Gaurav K.
In Human Genetics and Genomics Advances 13 April 2023 4(2)
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. JavierSchröck, EvelinRump, AndreasMei, DavideVetro, AnnalisaBalestrini, SimonaGuerrini, RenzoChinnery, Patrick F.Ratnaike, ThilokaSchon, KatherineMaver, AlesPeterlin, BorutMünchau, AlexanderLohmann, KatjaHerzog, RebeccaPauly, MartjeMay, PatrickBeeson, DavidCossins, JudithFurini, SimoneFallerini, ChiaraBenetti, ElisaAfenjar, AlexandraGoldenberg, AliceMasurel, AlicePhan, AliceDieux-Coeslier, AnneFargeot, AnneGuerrot, Anne-MarieToutain, AnnickMolin, ArnaudSorlin, ArthurPutoux, AudreyJouret, BéatriceLaudier, BéatriceDemeer, BénédicteDoray, BéréniceBonniaud, BertilleIsidor, BertrandGilbert-Dussardier, BrigitteLeheup, BrunoReversade, BrunoPaul, CarleVincent-Delorme, CatherineNeiva, CeciliaPoirsier, CélineQuélin, ChloéChiaverini, ChristineCoubes, ChristineFrancannet, ChristineColson, CindyDesplantes, ClaireWells, ConstanceGoizet, CyrilSanlaville, DamienAmram, DanielLehalle, DaphnéGeneviève, DavidGaillard, DominiqueZivi, EinatSarrazin, ElisabethSteichen, ElisabethSchaefer, ÉliseLacaze, ElodieJacquemin, EmmanuelBongers, ErnieKilic, EsraColin, EstelleGiuliano, FabiennePrieur, FabienneLaffargue, FannyMorice-Picard, FannyPetit, FlorenceCartault, FrançoisFeillet, FrançoisBaujat, GenevièveMorin, GillesDiene, GwenaëlleJournel, HubertPerthus, IsabelleLespinasse, JamesAlessandri, Jean-LucAmiel, JeanneMartinovic, JelenaDelanne, JulianAlbuisson, JulietteLambert, LaëtitiaPerrin, LaurenceOusager, Lilian BommeVan Maldergem, LionelPinson, LucileRuaud, LyseSamimi, MahtabBournez, MarieBonnet-Dupeyron, Marie NoëlleVincent, MarieJacquemont, Marie-LineCordier-Alex, Marie-PierreGérard-Blanluet, MarionWillems, MarjolaineSpodenkiewicz, MartaDoco-Fenzy, MartineRossi, MassimilianoRenaud, MathildeFradin, MélanieMathieu, MichèleHolder-Espinasse, Muriel H.Houcinat, NadaHanna, NadineLeperrier, NathalieChassaing, NicolasPhilip, NicoleBoute, OdileVan Kien, Philippe KhauParent, PhilippeBitoun, PierreSarda, PierreVabres, PierreJouk, Pierre-SimonTouraine, RenaudEl Chehadeh, SalimaWhalen, SandraMarlin, SandrinePassemard, SandrineGrotto, SarahBellanger, Séverine AudebertBlesson, SophieNambot, SophieNaudion, SophieLyonnet, StanislasOdent, SylvieAttie-Bitach, TaniaBusa, TiffanyDrouin-Garraud, ValérieLayet, ValérieBizaoui, VaroonaCusin, VéronicaCapri, YlineAlembik, YvesJean-Marçais, NolwennLópez-Martín, EstrellaMacek, MilanMencarelli, Maria AntoniettaMoutton, SébastienPfundt, RolphSafraou, HanaThauvin-Robinet, ChristelThevenon, JulienTran Mau-Them, Frédéricde Vries, Bert B.A.Willemsen, Marjolein H.Philippe, Christophe
In Genetics in Medicine April 2023 25(4)
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
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 MKessler, 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, FannyDavoine, Claire-SophieGuillot-Noel, LénaHeinzmann, AnnaCoarelli, GiuliaAllamand, ValérieNelson, IsabelleYaou, Rabah BenMetay, CorinneEymard, BrunoAtalaia, AntonioStojkovic, TanyaMacek, MilanTurnovec, MarekThomasová, DanaKremliková, Radka PourováFranková, VeraHavlovicová, MarkétaKremlik, VlastimilParkinson, HelenKeane, ThomasConsortia, 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
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
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
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