학술논문

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(예 : 2010-2015)
'학술논문' 에서 검색결과 432건 | 목록 1~10
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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)
Dissertation/ Thesis
TDX (Tesis Doctorals en Xarxa)
Academic Journal
Lasa-Aranzasti A; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.; Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain.; Department of Pediatrics, Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA, Paris, France.; Larasati YA; Translational Research Centre in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland.; da Silva Cardoso J; Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain.; Serviço de Pediatria do Centro Materno infantil do Norte, Centro Hospitalar Universitário de Santo António, Porto, Portugal.; Solis GP; Translational Research Centre in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland.; Koval A; Translational Research Centre in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland.; Cazurro-Gutiérrez A; Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain.; Department of Pediatrics, Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.; Ortigoza-Escobar JD; Movement Disorders Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; U-703 Center for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; European Reference Network-Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; Miranda MC; European Reference Network-Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; Department of Pediatrics Hospital General Universitario Gregorio Marañón, Madrid, Spain.; Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.; De la Casa-Fages B; European Reference Network-Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.; Movement Disorders Unit, Neurology Department, Hospital General Universitario Gregorio Marañón, Madrid, Spain.; Moreno-Galdó A; Department of Pediatrics, Universitat Autónoma de Barcelona, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; CIBER of Rare diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.; Tizzano EF; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain.; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA, Paris, France.; Gómez-Andrés D; Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain.; European Reference Network-Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; Department of Neurology, Vall Hebron University Hospital Barcelona, Barcelona, Spain.; Verdura E; Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain.; Katanaev VL; Translational Research Centre in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland.; School of Medicine and Life Sciences, Far Eastern Federal University, Vladivostok, Russia.; Pérez-Dueñas B; Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain.; Department of Pediatrics, Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.; European Reference Network-Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; Department of Pediatrics, Universitat Autónoma de Barcelona, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; CIBER of Rare diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE
Academic Journal
Yaldiz, B.Kucuk, E.Hampstead, J.Hofste, T.Corominas Galbany, J.Rinne, T.Hoischen, A.Nelen, M.Gilissen, C.Pfundt, R.Yntema, H.G.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.de Boer, E.Steehouwer, M.Yaldiz, B.Kleefstra, T.Brookes, A.J.Veal, C.Gibson, S.Maddi, V.Mehtarizadeh, M.Riaz, U.Warren, G.Dizjikan, F.Y.Shorter, T.Töpf, A.Straub, V.Bettolo, C.M.Manera, J.D.Hambleton, S.Engelhardt, K.Clayton-Smith, J.Banka, S.Alexander, E.Jackson, A.Faivre, L.Thauvin, C.Vitobello, A.Denommé-Pichon, A.-S.Duffourd, Y.Bruel, A.-L.Peyron, C.Pélissier, A.Beltran, S.Gut, I.G.Laurie, S.Piscia, D.Matalonga, L.Papakonstantinou, A.Bullich, G.Corvo, A.Fernandez-Callejo, M.Hernández, C.Picó, D.Paramonov, I.Lochmüller, H.Gumus, G.Bros-Facer, V.Rath, A.Hanauer, M.Lagorce, D.Hongnat, O.Chahdil, M.Lebreton, E.Stevanin, G.Durr, A.Davoine, C.-S.Guillot-Noel, L.Heinzmann, A.Coarelli, G.Bonne, G.Evangelista, T.Allamand, V.Nelson, I.Yaou, R.B.Metay, C.Eymard, B.Cohen, E.Atalaia, A.Stojkovic, T.Macek, M.Turnovec, M.Thomasová, D.Kremliková, R.P.Franková, V.Havlovicová, M.Lišková, P.Doležalová, P.Parkinson, H.Keane, T.Freeberg, M.Thomas, C.Spalding, D.Robinson, P.Danis, D.Robert, G.Costa, A.Patch, C.Hanna, M.Houlden, H.Reilly, M.Vandrovcova, J.Efthymiou, S.Morsy, H.Cali, E.Magrinelli, F.Sisodiya, S.M.Rohrer, J.Muntoni, F.Zaharieva, I.Sarkozy, A.Timmerman, V.Baets, J.de Vries, G.De Winter, J.Beijer, D.de Jonghe, P.Van de Vondel, L.De Ridder, W.Weckhuysen, S.Nigro, V.Mutarelli, M.Morleo, M.Pinelli, M.Varavallo, A.Banfi, S.Torella, A.Musacchia, F.Piluso, G.Ferlini, A.Selvatici, R.Gualandi, F.Bigoni, S.Rossi, R.Neri, M.Aretz, S.Spier, I.Sommer, A.K.Peters, S.Oliveira, C.Pelaez, J.G.Matos, A.R.José, C.S.Ferreira, M.Gullo, I.Fernandes, S.Garrido, L.Ferreira, P.Carneiro, F.Swertz, M.A.Johansson, L.van der Velde, J.K.van der Vries, G.Neerincx, P.B.Ruvolo, D.Abbott, K.M.Frederikse, W.S.K.Zonneveld-Huijssoon, E.Roelofs-Prins, D.van Gijn, M.Köhler, S.Metcalfe, A.Verloes, A.Drunat, S.Heron, D.Mignot, C.Keren, B.de Sainte Agathe, J.-M.Rooryck, C.Lacombe, D.Trimouille, A.De la Paz, M.P.Sánchez, E.B.Martín, E.L.Delgado, B.M.de la Rosa, F.J.A.G.Ciolfi, A.Dallapiccola, B.Pizzi, S.Radio, F.C.Tartaglia, M.Renieri, A.Furini, S.Fallerini, C.Benetti, E.Balicza, P.Molnar, M.J.Maver, A.Peterlin, B.Münchau, A.Lohmann, K.Herzog, R.Pauly, M.Macaya, A.Cazurro-Gutiérrez, A.Pérez-Dueñas, B.Munell, F.Jarava, C.F.Masó, L.B.Marcé-Grau, A.Colobran, R.Osorio, A.N.de Benito, D.N.Lochmüller, H.Thompson, R.Polavarapu, K.Grimbacher, B.Beeson, D.Cossins, J.Hackman, P.Johari, M.Savarese, M.Udd, B.Horvath, R.Chinnery, P.F.Ratnaike, T.Gao, F.Schon, K.Capella, G.Valle, L.Holinski-Feder, E.Laner, A.Steinke-Lange, V.Schröck, E.Rump, A.Başak, A.N.Hemelsoet, D.Dermaut, B.Schuermans, N.Poppe, B.Verdin, H.Mei, D.Vetro, A.Balestrini, S.Guerrini, R.Claeys, K.Santen, G.W.E.Bijlsma, E.K.Hoffer, M.J.V.Ruivenkamp, C.A.L.Boztug, K.Haimel, M.Maystadt, I.Cordts, I.Deschauer, M.Zaganas, I.Kokosali, E.Lambros, M.Evangeliou, A.Spilioti, M.Kapaki, E.Bourbouli, M.Striano, P.Zara, F.Riva, A.Iacomino, M.Uva, P.Scala, M.Scudieri, P.Cilio, M.-R.Carpancea, E.Depondt, C.Lederer, D.Sznajer, Y.Duerinckx, S.Mary, S.Depienne, C.Roos, A.May, P.
In: Human Genomics. (Human Genomics, December 2023, 17(1))
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