학술논문


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'학술논문' 에서 검색결과 2,274건 | 목록 1~20
Academic Journal
Salpietro, VincenzoMaroofian, RezaZaki, Maha S.Wangen, JamieCiolfi, AndreaBarresi, SabinaEfthymiou, StephanieLamaze, AngeliqueAughey, Gabriel N.Al Mutairi, FuadRad, AboulfazlRocca, ClarissaCalì, ElisaAccogli, AndreaZara, FedericoStriano, PasqualeMojarrad, MajidTariq, HumaGiacopuzzi, EdoardoTaylor, Jenny C.Oprea, GabrielaSkrahina, VolhaRehman, Khalil UrAbd Elmaksoud, MarwaBassiony, MahmoudEl Said, Huda G.Abdel-Hamid, Mohamed S.Al Shalan, MahaSeo, GohunKim, SohyunLee, HaneKhang, RinIssa, Mahmoud Y.Elbendary, Hasnaa M.Rafat, KarimaMarinakis, Nikolaos M.Traeger-Synodinos, JoanneVerveri, AthinaSourmpi, MaraEslahi, AtiehKhadivi Zand, FarhadBeiraghi Toosi, MehranBabaei, MeisamJackson, AdamHannah, Michael G.Bugiardini, EnricoBertini, EnricoKriouile, YamnaEl-Khorassani, MohamedAguennouz, MhammedGroppa, StanislavKarashova, Blagovesta M.Goraya, Jatinder S.Sultan, TipuAvdjieva, DanielaKathom, HadilTincheva, RadkaBanu, SelinaVeggiotti, PierangeloVerrotti, AlbertoLanari, MarcelloSavasta, SalvatoreMacaya, AlfonsGaravaglia, BarbaraBorgione, EugeniaPapacostas, SavvasVikelis, MichailChelban, VioricaKaiyrzhanov, RauanCortese, AndreaSullivan, RoisinPapanicolaou, Eleni Z.Dardiotis, EfthymiosMaqbool, ShaziaIbrahim, ShahnazKirmani, SalmanRana, Nuzhat N.Atawneh, OsamaLim, Shen-YangZuccotti, Gian V.Marseglia, Gian L.Esposito, SusannaShaikh, FarooqCogo, PaolaCorsello, GiovanniMangano, SalvatoreNardello, RosariaMangano, DonatoScardamaglia, AnnaritaKoutsis, GeorgeScuderi, CarmelaFerrara, PietroMorello, GiovannaZollo, MassimoBerni-Canani, RobertoTerracciano, Luigi M.Sisto, AntonioDi Fabio, SandraStrano, FedericaScorrano, GiovannaDi Bella, SaverioDi Francesco, LudovicaManizha, GanievaIsrofilov, MaksudGuliyeva, UlviyyaSalayev, KamranKhachatryan, SamsonXiromerisiou, GeorgiaSpanaki, CleantheFiorillo, ChiaraIacomino, MicheleGaudio, EugenioMunell, FrancinaGagliano, AntonellaJan, FaridaChimenz, RobertoGitto, EloisaIughetti, LorenzoDi Rosa, GabriellaMaghnie, MohamadPettoello-Mantovani, MassimoGupta, NeerjaKabra, MadhulikaBenrhouma, HaneneTazir, MeriemBottone, GabriellaFarello, GiovanniDelvecchio, MaurizioDi-Donato, GiulioObeid, MakramBakhtadze, SophiaSaadi, Nebal W.Miraglia-Del-Giudice, MicheleMaccarone, RitaTriki, Chahnez C.Kara, MajdiKarimiani, Ehsan G.Salih, Ahmed M.Ramenghi, Luca A.Seri, MarcoDi-Falco, GiovannaMandarà, LuanaBarrano, GiuseppeElisa, MaurizioCherubini, EnricoOperto, Francesca F.Valenzise, MariellaCattaneo, AntoninoZazzeroni, FrancescaAlesse, EdoardoMatricardi, SaraZafar, FaisalUllah, EhsanAfzal, ErumRahman, FatimaAhmed, Muhammad M.Parisi, PasqualeSpalice, AlbertoDe Filippo, MariaLicari, AmeliaTrebbi, EdoardoRomano, FerdinandoHeimer, GaliAl-Khawaja, IssamAl-Mutairi, FuadAlkuraya, Fowzan S.Rizig, MieShashkin, ChingizZharkynbekova, NaziraKoneyev, KairgaliBertoli-Avella, AidaPagnamenta, Alistair T.Niceta, MarcelloBattini, RobertaCorsello, AntonioLeoni, ChiaraChiarelli, FrancescoDallapiccola, BrunoFaqeih, Eissa AliTallur, Krishnaraya K.Alfadhel, MajidAlobeid, EmanMaddirevula, SateeshMankad, KshitijBanka, SiddharthGhayoor-Karimiani, EhsanTartaglia, MarcoChung, Wendy K.Green, RachelJepson, James E. C.Houlden, Henry
Am J Hum Genet
SYNAPS Study Group 2024, 'Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome', American Journal of Human Genetics, vol. 111, no. 1, pp. 200-210. https://doi.org/10.1016/j.ajhg.2023.11.012
Academic Journal
2020 Tijdschrift voor Constitutioneel Recht 221 (2020) / Tijdschrift voor Constitutioneel Recht (TvCR), Vol. 2020, Issue 2 (2020), pp. 221-234
Academic Journal
2019 Tijdschrift voor Constitutioneel Recht 24 (2019) / Tijdschrift voor Constitutioneel Recht (TvCR), Vol. 2019, Issue 1 (January 2019), pp. 24-50
Academic Journal
Ceccato, AdrianScheer, Christian S.Ferrer, RicardMartinez, Maria LuisaCisteró, BertaYébenes, Juan CarlosTrenado, JosepLorencio, CarolLinder, AdamFilipescu, DanielaIdelevich, Evgeny A.Giamarellos-Bourboulis, Evangelos J.Artigas, AntonioScharf, A.Leoniuk, AdamCataldo, AdrianaDąbkowska, AgataGłusek, AgneverszkaIoakeimidou, AikateriniBeishuizen, AlbertusSzczepańska, AldonaMartin-Quiros, AlejandroRodriguez, AlejandroOliva, AlessandraManfredi, AlessandroFranceschi, AlessiaBertini, AlessioMaroccia, AlessioKoch, AlexanderNicko, AlexanderBleibtreu, AlexandreRezaei, AliKazachonak, AliakseiBartkowska-Śniatkowska, AlicjaTosoni, AlviseDaverio, MarcoBártolo, AnabelaHarabor, AnamariaAkpabie, AnaniCarsetti, AndreaMagaard, AndreaEkman, AndreasHecker, AndreasNowak, AndreasOstermeier, AndreasPrengel, AndreasSielenkämper, AndreasThierbach, AndreasKrystopchuk, AndriyPihowicz, AndrzejCrombach, A. NeverkLiebke, AngelaLukic, AnitaHeymann, AnjaBaßeler, SebastianLange, Anja-TamaraAntes-żupa, AnnaEfthymiou, AnnaEklund, AnnaLukaszewska, AnnaMeuronen, AnnaRadlińska, AnnaRekas-Dudziak, AnnaTacx, AnneliesPulkkinen, AnniLassen, AnnmarieFrattari, AntonellaViola, AntonellaCarneiro, AntonioMäkelä, AnttiPaulus, Arion-BjörnSablotzki, ArminSeibel, ArminRöhrs, ArneChalkias, AthanasiosNeverrhaus, AxelAnuszkiewicz, B.Kadar, BalazsMichelangelo, BartoloSasko, BenjaminMüllejans, BerndBirmes, BernhardGottschlich, BirgitMustac-Hlebec, BiserkaJäschke, BjörnSakakushev, Boris E.Duplancic, BozidarVan Herendael, BrunoIbrahim, BushraMansson, AnnaRayner, CaitrionaCosmin, CalanciaHopper, CarlaTriginer, CarlesPallotto, CarloLauterbach, CarmenRomero, Carolina SRiske, CarolineGentili, CaterinaByhahn, ChristianKeuneke, ChristianPrause, ChristianSchlottke, ChristianLydon, ChristinaWeis, ChristineBüttner, ChristophDodt, ChristophPeter, ChristophPlank, ChristophAveline, ChristopheBarletta, CinziaGutsche, ClaudiaHolzbauer, ClaudiaBodolea, ConstantinThörmer, CordulaCourjon, JohanCobilinschi, CristianHonorato, CristinaKopitkó, CsabaEngemann, DagmarCorneci, DanBender, DaNeverlIonescu, DaNeverlaOrso, DaNeverleHonan, DavidMíra, DavidDörschner, DietmarKeller, DietrichSchizas, DimitriosBliamplias, DimitrisHinz, DirkMeininger, DirkAnnane, DjillaliSchwurack, AstridCarine, DokoulaEinwag, DominikSandesc, DorelVan Cotthem, IlseVerwulgen, EefjeChircov, ElenaKarlafti, EleniRiihioja, ElinaMontel, ElisabethRolén, Els-MarieSermijn, EricaJavouhey, EtienneSchaden, EvaWinklaar, EvenyDimitrov, EvgeniNikolaev, EvgeniVoets, EvyZabul, EwaLópez Altimiras, F. 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HeinerGroesdonk, Heinrich V.Rüddel, HendrikJansen, HenningRueffert, HenrikCappellini, IacopoToth, IbolyaSchanz, IlkaHajnal-Gabriela, IllesGrigoras, IoanaOrfanos, IoannisOsojnik, IrenaRzepNeverwski, IreneuszKlaus, IrisKoper, IrisBagiu, IuliaMorlova, Iulia-RoxanaHerold, IvanPavlić, IvanaSchindler, IvoMohd, IzzaddinKraßler, J.Miquel Morales, J.Prokopowicz, JacekPackmohr, JacobHoogerwerf, JacobienBilski, JakubBeneš, JanBreuls, JanCastan, JanFrič, JanMersmann, JanRoesner, Jan P.Seemann, JanZatloukal, JanBaumert, Jan-HinrichMeyer, Jan-JakobFastnacht-Böttcher, JanaProtzel, JanaSzederjesi, JanosGruszczyk, JanuszMichalak, JanuszHouser, JaroslavJanc, JarosławLuboński, JarosławHermid, JavierPilar, JavierVincent, Jean-LouisLanoix, Jean-PhilippeAlsma, JelmerDöffert, JensEriksson, JensHeidrich, JensSoukup, JensNeverlsen, Jeppe SAPasquier, JeremieSvefors, JesperDvorský, JiříKlimeš, JiříPařízek, JiříZurek, JiriBartczak, JoannaZorska, JoannaBerkius, JohanLindström, JohanKnotzer, JohannHästbacka, JohannaRhein, JohannesWierzchowska, JolantaWeißkirchen, JonaSunden-Cullberg, JonasTverring, JonasEngel, JörgKappert, JörgRehlinghaus, JörgKovacs, JuditSchön, JulikaMaelegheer, KarelStefańska-Wronka, KarinaReiter, KarlBaścik, KatarzynaSkawińska, KatarzynaDonadello, KatiaMasjosthusmann, KatjaMüller-Forte, Kay-LarsStraka, KellyDewitte, KenAchmus-Stenz, KerstinJie, KimSlieker, KittyKogelmann, KlausMauermann, KnutMüller, KnutNikolaos, KoronakisOremus, KresimirNõmm, KuidoLjungström, LarsWitt, LarsPopa, LauraRyan, LauraIonescu, Laviniavan Lelyveld-Haas, LennekeLicari, LeoValeanu, LianaZahradníček, LiborSamuelsson, LineMellhammar, LisaHasak, LiudmilaVladoiu, LiviaKämmerling, LudgerBonavina, LuigiEnsenat, LuisBarnas, LukasLörinc, LukasOlendrzyński, ŁukaszRak, ŁukaszCoronel, LupePfeiffer, LutzGryskova, M.Schüler, M.Hult, MaaritGawor, MaciejMiulescu, MagdalenaWujtewicz, MagdalenaMikaszewska-Sokoleiwcz, MalgorzataMorisse, MalteHoefler, ManfredNuscheler, ManfredCorina-Cecilia, Manole-PalivanBeckers, MarcBota, MarcBarchetti, MarcoIngrosso, MarcoRipa, MarcoAndersson, MariaFortofoiu, MariaZach, MariaAnghele, MarianaGuarino, MarioMaciaszek, MariolaTałałaj, MariolaPapurica, MariusNeufang, MarkBressler, MarkusEller, MarkusKestler, MarkusKredel, MarkusRudnick, MarkusTeipel, Markusvan Tellingen, MartijnBeiderlinden, MartinBier, MartinCermak, MartinEbert, MartinHelan, MartinKahl, MartinMetelka, MartinReichert, MartinSchütz, MartinSpångfors, MartinWagner, MartinČehulić, MartinaPavletić, MartinaGyenge, MartonBedding, MaryMehdi, MarzoukBiberič, MašaMiszczyszyn, MateuszFischer, MathiasSprenger, MathiasBelavić, MatijaJurjević, MatijaGroznik, MatjažGründling, MatthiasHuck, MatthiasLutze, MatthiasMenzel, MatthiasSchmauß, MatthiasWeiß, MatthiasMazzoni, MaurizioMüller, MaxSouquet, JochenRagaller, MaximilianBooke, MichaelBuerke, MichaelDalager-Pedersen, MichaelDolch, MichaelFries, MichaelHabenicht, MichaelKremer, MichaelMeisner, MichaelMeyer, MichaelPogatschnigg, MichaelSchütz, MichaelStofkoper, MichaelHolub, MichalPelíšek, MichalSitina, MichalŚpiewak, MichałZiółkowski, MichałBehan, MichelleBlaj, MihaelaConci, MihaelaLupse, MihaelaValtonen, MikaMoriconi, MikaelDagmar, MinaříkováZajicek, MiroslavHasaballah, MohamedUnglaube, MoritzGuimarães, NádiaIssa, NahemaLayios, NathalieBarros, NelsonBelaube, NicolasMongardon, NicolasSerck, NicolasVerbeke, NikolaasLambiris, NikolasRovina, NikolettaHaake, NilsPolze, NinaSulen, NinaBruns, NoraBuenen, NoudAssadian, OjanBroch, OleOliwa, OlenaKlementová, OlgaBeck, OliverHabler, OliverHensel, OliverKunitz, OliverSchmid, OliverBlivik, OlofZika, OndrejMörer, OnnenIoannidis, OrestisLjungquist, OskarRodari, PaolaRaffaella, PapaLindgren, PärStammet, PascalMinchella, PasqualePatricio, PatriciaGille-Johnson, PatrikPetricci, PatriziaPestana, PaulaVera, PaulaDostal, PavelMalina, PavelSedlák, PavelBrand, PeterNeumann, PeterHubacek, PetrStepanek, PetrUhlig, PetrWegermann, PetraTsafoulis, PhilippFillatre, PierreTattevin, 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Academic Journal
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Academic Journal
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Nature Genetics. :1-14
Academic Journal
Lama AlabdiNorah AltuwaijriJun-yi ZhuStephanie EfthymiouHangnoh LeeJianli DuanIsraa SalemPiao YuNor Linda AbdullahFatema AlzahraniQing XuMashael M. FelembanAbdullah AlfaifiFatima RahmanMarilena ChristoforouShazia MaqboolJulian A. Martinez-AgostoHessa S. AlsaifMais HashemRana HelabyAhood AlsulaimanReza MaroofianHenry HouldenStefan T. AroldLeena A. IbrahimZhe HanFowzan S. AlkurayaStanislav GroppaBlagovesta Marinova KarashovaWolfgang NachbauerSylvia BoeschLarissa ArningDagmar TimmannBru CormandBelen Pérez-DueñasGabriella Di RosaJatinder S. GorayaTipu SultanJun MineDaniela AvdjievaHadil KathomRadka TinchevaSelina BanuMercedes Pineda-MarfaPierangelo VeggiottiMichel D. FerrariAlberto VerrottiGiangluigi MarsegliaSalvatore SavastaMayte García-SilvaAlfons Macaya RuizBarbara GaravagliaEugenia BorgioneSimona PortaroBenigno Monteagudo SanchezRichard BolesSavvas PapacostasMichail VikelisEleni Zamba PapanicolaouEfthymios DardiotisShahnaz IbrahimSalman KirmaniNuzhat Noureen RanaOsama AtawnehGeorge KoutsisMarianthi BrezaSalvatore ManganoCarmela ScuderiGiovanna MorelloTanya StojkovicMassimo ZolloGali HeimerYves A. DauvilliersPasquale StrianoIssam Al-KhawajaFuad Al-MutairiSherifa Ahmed HamedMohamed A. Abd El HamedSamson KhachatryanUlviyya GuliyevaSughra GuliyevaKamran SalayevGeorgia XiromerisiouLiana FidaniCleanthe SpanakiMhammed AguennouzGabriella SilvestriChingiz ShashkinNazira ZharkynbekovaKairgali KoneyevAbdullah Al-AjmiShen-Yang LimFarooq ShaikhMohamed El KhorassaniArn M.J.M. van den MaagdenbergNjideka U. OkubadejoOluwadamilola O. OjoKolawole WahabAbiodun H. BelloSanni AbubakarYahaya ObiaboErnest NwazorOluchi EkenzeUduak WilliamsAlagoma IyagbaLolade TaiwoMorenikeji KomolafeOlapeju OguntundeKonstantin SenkevichGanieva ManizhaMaksud IsrofilovErin TortiMaha ZakiHoda TomoumAmira NabilPaola NicolaidesShahzad HaiderDana HasbiniChadi el AlamMona HuneinehFaisal ZafarErum AfzalIlyas MuhammadAtchayaram NaliniSofia BakhtazeShahid BaigBen IssaChahnez TrikiMussa BassamDana CraiouMeriem TazirLamia Ali PatchaNebal Waill SaadiHanene BenrhoumaPayam SarafKhalid Hama SalihAwatif
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Academic Journal
Avinash V. DharmadhikariMaria Alba AbadSheraz KhanReza MaroofianTristan T. SandsFarid UllahItaru SamejimaYanwen ShenMartin A. WearKiara E. MooreElena KondakovaNatalia MitinaTheres SchaubGrace K. LeeChristine H. UmandapSara M. BergerAlejandro D. IglesiasBernt PoppRami Abou JamraHeinz GabrielStefan RentasAlyssa L. RippertChristopher GrayKosuke IzumiLaura K. ConlinDaniel C. KoboldtTheresa Mihalic MosherScott E. HickeyDara V. F. AlbertHaley NorwoodAmy Feldman LewandaHongzheng DaiPengfei LiuTadahiro MitaniDana MarafiHatice Koçak EkerDavut PehlivanJennifer E. PoseyNatalie C. LippaNatalie VenaErin L. HeinzenDavid B. GoldsteinCyril MignotJean-Madeleine de Sainte AgatheNouriya Abbas Al-SannaaMina ZamaniSaeid SadeghianReza AzizimalamiriTahere SeifiaMaha S. ZakiGhada M. H. Abdel-SalamMohamed S. Abdel-HamidLama AlabdiFowzan Sami AlkurayaHeba DawoudAya LoftyPeter BauerGiovanni ZifarelliErum AfzalFaisal ZafarStephanie EfthymiouDaniel GossettMeghan C. TowneRaey YeneabatBelen Perez-DuenasAna Cazurro-GutierrezEdgard VerduraVeronica Cantarin-ExtremeraAna do Vale MarquesAleksandra HelwakDavid TollerveySandeep N. WontakalVimla S. AggarwalJill A. RosenfeldVictor TarabykinShinya OhtaJames R. LupskiHenry HouldenWilliam C. EarnshawErica E. DavisA. Arockia JeyaprakashJun Liao
Nature Communications, Vol 16, Iss 1, Pp 1-24 (2025)
Academic Journal
Laurie, S.Steyaert, W.A.R.de Boer, E.Polavarapu, K.Schuermans, N.Sommer, A.K.Demidov, G.Ellwanger, K.Paramonov, I.Thomas, C.Aretz, S.Baets, J.Benetti, E.Bullich, G.Chinnery, P.F.Clayton-Smith, J.Cohen, E.Danis, D.de Sainte Agathe, J.M.Denommé-Pichon, A.S.Diaz-Manera, J.Efthymiou, S.Faivre, L.Fernandez-Callejo, M.Freeberg, M.Garcia-Pelaez, J.Guillot-Noel, L.Haack, T.B.Hanna, M.Hengel, H.Horvath, R.Houlden, H.Jackson, A.Johansson, L.Johari, M.Kamsteeg, E.J.Kellner, M.Kleefstra, T.Lacombe, D.Lochmüller, H.López-Martín, E.Macaya, A.Marcé-Grau, A.Maver, A.Morsy, H.Muntoni, F.Musacchia, F.Nelson, I.Nigro, V.Olimpio, C.Oliveira, C.Paulasová Schwabová, J.Pauly, M.G.Peterlin, B.Peters, SophiaPfundt, R.P.Piluso, G.Piscia, D.Posada, M.Reich, S.Renieri, A.Ryba, L.Sablauskas, K.Savarese, M.Schöls, L.Schütz, L.Steinke-Lange, V.Stevanin, G.Straub, V.Sturm, M.Swertz, M.A.Tartaglia, M.te Paske, I.B.A.W.Thompson, R.Torella, A.Trainor, C.Udd, B.Van de Vondel, L.van de Warrenburg, B.P.C.van Reeuwijk, J.Vandrovcova, J.Vitobello, A.Vos, J.R.Vyhnálková, E.Wijngaard, R.Wilke, C.William, D.Xu, JishuYaldiz, B.Zalatnai, L.Zurek, B.Brookes, A.J.Evangelista, T.Gilissen, C.F.H.A.Graessner, H.Hoogerbrugge, N.Ossowski, S.Riess, O.Schüle, R.Synofzik, M.Verloes, A.Matalonga, L.Brunner, H.G.Lohmann, K.de Voer, R.M.Töpf, A.Vissers, L.E.L.M.Beltran, S.Hoischen, A.
Academic Journal
Banks, EmilyFrancis, VincentLin, Sheng-JiaKharfallah, FaresFonov, VladimirLévesque, MaximeHan, ChanshuaiKulasekaran, GopinathTuznik, MariusBayati, ArminAl-Khater, ReemAlkuraya, Fowzan S.Argyriou, LoukasBabaei, MeisamBahlo, MelanieBakhshoodeh, BehnooshBarr, EileenBartik, LaurenBassiony, MahmoudBertrand, MiriamBraun, DominiqueBuchert, RebeccaBudetta, MauroCadieux-Dion, MaximeCalame, Daniel G.Cope, HeidiCushing, DonnaEfthymiou, StephanieElmaksoud, Marwa AbdEl Said, Huda G.Froukh, TawfiqGill, Harinder K.Gleeson, Joseph G.Gogoll, LauraGoh, Elaine S.-Y.Gowda, Vykuntaraju K.Haack, Tobias B.Hashem, Mais O.Hauser, StefanHoffman, Trevor L.Hogue, Jacob S.Hosokawa, AkimotoHoulden, HenryHuang, KevinHuynh, StephanieKarimiani, Ehsan G.Kaulfuß, SilkeKorenke, G. ChristophKritzer, AmyLee, HaneLupski, James R.Marco, Elysa J.McWalter, KirstyMinassian, ArakelMinassian, Berge A.Murphy, DavidNeira-Fresneda, JuanitaNorthrup, HopeNyaga, Denis M.Oehl-Jaschkowitz, BarbaraOsmond, MatthewPerson, RichardPehlivan, DavutPetree, CassidySadleir, Lynette G.Saunders, CarolSchoels, LudgerShashi, VandanaSpillmann, Rebecca C.Srinivasan, Varunvenkat M.Torbati, Paria N.Tos, TulayZaki, Maha S.Zhou, DihongZweier, ChristianeTrempe, Jean-FrançoisDurcan, Thomas M.Gan-Or, ZivAvoli, MassimoAlves, CesarVarshney, Gaurav K.Maroofian, RezaRudko, David A.McPherson, Peter S.
Nature Communications. 15(1)
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