학술논문


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'학술논문' 에서 검색결과 1,698건 | 목록 1~20
Academic Journal
Quinodoz, MathieuRodenburg, KimCvackova, ZuzanaKaminska, Karolinade Bruijn, Suzanne E.Iglesias-Romero, Ana BelénBoonen, Erica G. M.Ullah, MukhtarZomer, NickFolcher, MarcBijon, JacquesHoltes, Lara K.Tsang, Stephen H.Corradi, ZeliaFreund, K. BaileyShliaga, StefanidaPanneman, Daan M.Hitti-Malin, Rebekkah J.Ali, ManirAlTalbishi, Ala’aAndréasson, StenAnsari, GeorgArno, GavinAstuti, Galuh D. N.Ayuso, CarmenAyyagari, RadhaBanfi, SandroBanin, EyalBarakat, Tahsin StefanBarboni, Mirella T. S.Bauwens, MiriamBen-Yosef, TamarBernard, VirginieBirch, David G.Biswas, PoojaBlanco-Kelly, FionaBocquet, BeatriceBoon, Camiel J. F.Branham, KariBremond-Gignac, DominiqueBritten-Jones, Alexis CeeceeBujakowska, Kinga M.Burin des Roziers, CyrilCadena, Elizabeth L.Calzetti, GiacomoCancellieri, FrancescaCattaneo, LucaChadderton, NaomiCharbel Issa, PeterCoutinho-Santos, LuísaDaiger, Stephen P.De Baere, ElfrideDe Bruyne, Mariekede la Cerda, BertaDe Roach, John N.De Zaeytijd, JulieDerks, RonnyDhaenens, Claire-MarieDudakova, LubicaDuncan, Jacque L.Farrar, G. JaneFeltgen, NicolasFenner, Beau J.Fernández-Caballero, LidiaFerraz Sallum, Juliana M.Gana, SimoneGaranto, AlejandroGardner, Jessica C.Gilissen, ChristianGonzàlez-Duarte, RoserGoto, KensukeGriffiths-Jones, SamHaack, Tobias B.Haer-Wigman, LonnekeHardcastle, Alison J.Hayashi, TakaakiHéon, EliseHoefsloot, Lies H.Hoischen, AlexanderHoltan, Josephine P.Hoyng, Carel B.Ibanez, IV, Manuel Benjamin B.Inglehearn, Chris F.Iwata, TakeshiJensson, Brynjar O.Jones, KaylieKalatzis, VasilikiKamakari, SmaragdaKarali, MarianthiKellner, UlrichKlaver, Caroline C. W.Knézy, KrisztinaKoenekoop, Robert K.Kohl, SusanneKominami, TaroKühlewein, LauraLamey, Tina M.Leibu, RinaLeroy, Bart P.Liskova, PetraLopez, IrmaLópez-Rodríguez, Victor R. de J.Mahieu, QuintenMahroo, Omar A.Manes, GaëlMansard, LukeMartín-Gutiérrez, M. PilarMartins, NelsonMauring, LauraMcKibbin, MartinMcLaren, Terri L.Meunier, IsabelleMichaelides, MichelMillán, José M.Mizobuchi, KeiMukherjee, RajarshiNagy, Zoltán ZsoltNeveling, KorneliaOłdak, MonikaOorsprong, MichielPan, YangPapachristou, AnastasiaPercesepe, AntonioPfau, MaximilianPierce, Eric A.Place, EmilyRamesar, RajRamond, FrancisRasquin, Florence AndréeRice, Gillian I.Roberts, LisaRodríguez-Hidalgo, MaríaRuiz-Ederra, JavierSabir, Ataf H.Sajiki, Ai FujitaSánchez-Barbero, Ana IsabelSarma, Asodu SandeepSangermano, RiccardoSantos, Cristina M.Scarpato, MargheritaScholl, Hendrik P. N.Sharon, DrorSignorini, Sabrina G.Simonelli, FrancescaSousa, Ana BertaStefaniotou, MariaStefansson, KariStingl, KatarinaSuga, AkikoSulem, PatrickSullivan, Lori S.Szabó, ViktóriaSzaflik, Jacek P.Taurina, GitaThiadens, Alberta A. H. J.Toomes, CarmelTran, Viet H.Tsilimbaris, Miltiadis K.Tsoka, PavlinaVaclavik, VeronikaVajter, MarieValeina, SandraValente, Enza MariaValentine, CaseyValero, RebecaValleix, Sophievan Aerschot, Josephvan den Born, L. IngeborghVan Heetvelde, MattiasVerhoeven, Virginie J. M.Vincent, Andrea L.Webster, Andrew R.Whelan, LauraWissinger, BerndYioti, Georgia G.Yoshitake, KazutoshiZenteno, Juan C.Zeuli, RobertaZuleger, TheresiaLandau, ChaimJacob, Allan I.Lin, SiyingCremers, Frans P. M.Lee, WinstonEllingford, Jamie M.Stanek, DavidRoosing, SusanneRivolta, Carlo
Nature Genetics. 58(1):169-179
Academic Journal
Clinical Neuroradiology: Official Journal of the German, Austrian, and Swiss Societies of Neuroradiology. :1-4
Report
Acharyya, AtreyaAdams, Colin B.Bangale, PriyadarshiniBartkoske, J. T.Benbow, WystanBuckley, James H.Chen, YuChristiansen, JodiChromey, AlishaDuerr, AnneErrando, ManelGodoy, Miguel E.Falcone, AbeFeng, QiFoote, JuniperFortson, LucyFurniss, AmyHanlon, WilliamHanna, DavidHervet, OlivierHinrichs, Claire E.Holder, JamieHumensky, Thomas B.Jin, WeidongJohnson, Madalyn N.Kaaret, PhilipKertzman, Mary P.Kherlakian, MariaKieda, DavidKleiner, Tobias K.Korzoun, Mx. NikolasKrennrich, FrankKumar, SajanLang, Mark J.Lundy, MatthewMcGrath, ConorMeyer, Eileen T.Millard, Matthew J.Millis, JohnMooney, ConnorMoriarty, PatrickMukherjee, ReshmiNing, WenmengO'Brien, StephanOng, Rene A.Pohl, MartinPueschel, ElisaQuinn, JohnRabinowitz, Pazit L.Ragan, KenReynolds, PaulRibeiro, DeividRoache, Emmet ThomasRyan, Jamie L.Sadeh, IftachSadun, AlbertoSaha, LabSantander, MarcosSembroski, Glenn H.Shang, Ruo-YuSplettstoesser, MeganTak, DonggeunTalluri, Anjana K.Tucci, James V.Valverde, JanethWilliams, David A.Wong, Sam L.Woo, JooyunAbbasi, R.Ackermann, M.Adams, J.Agarwalla, S. K.Aguilar, J. A.Ahlers, M.Alameddine, J. M.Amin, N. M.Andeen, K.Argüelles, C.Ashida, Y.Athanasiadou, S.Axani, S. N.Babu, R.Bai, X.V., A. BalagopalBaricevic, M.Barwick, S. W.Bash, S.Basu, V.Bay, R.Beatty, J. J.Tjus, J. BeckerBeise, J.Bellenghi, C.BenZvi, S.Berley, D.Bernardini, E.Besson, D. Z.Blaufuss, E.Bloom, L.Blot, S.Bontempo, F.Motzkin, J. Y. BookMeneguolo, C. BoscoloBöser, S.Botner, O.Böttcher, J.Braun, J.Brinson, B.Brisson-Tsavoussis, Z.Brostean-Kaiser, J.Brusa, L.Burley, R. T.Butterfield, D.Campana, M. A.Caracas, I.Carloni, K.Carpio, J.Chattopadhyay, S.Chau, N.Chen, Z.Chirkin, D.Choi, S.Clark, B. A.Coleman, A.Coleman, P.Collin, G. H.Connolly, A.Conrad, J. M.Corley, R.Cowen, D. F.De Clercq, C.DeLaunay, J. J.Delgado, D.Deng, S.Desai, A.Desiati, P.de Vries, K. D.de Wasseige, G.DeYoung, T.Diaz, A.Díaz-Vélez, J. C.Dierichs, P.Dittmer, M.Domi, A.Draper, L.Dujmovic, H.Durnford, D.Dutta, K.DuVernois, M. A.Ehrhardt, T.Eidenschink, L.Eimer, A.Eller, P.Ellinger, E.Mentawi, S. ElElsässer, D.Engel, R.Erpenbeck, H.Esmail, W.Evans, J.Evenson, P. A.Fan, K. L.Fang, K.Farrag, K.Fazely, A. R.Fedynitch, A.Feigl, N.Fiedlschuster, S.Finley, C.Fischer, L.Fox, D.Franckowiak, A.Fukami, S.Fürst, P.Gallagher, J.Ganster, E.Garcia, A.Garcia, M.Garg, G.Genton, E.Gerhardt, L.Ghadimi, A.Girard-Carillo, C.Glaser, C.Glüsenkamp, T.Gonzalez, J. G.Goswami, S.Granados, A.Grant, D.Gray, S. J.Griffin, S.Griswold, S.Groth, K. M.Guevel, D.Günther, C.Gutjahr, P.Ha, C.Haack, C.Hallgren, A.Halve, L.Halzen, F.Hamacher, L.Hamdaoui, H.Minh, M. HaHandt, M.Hanson, K.Hardin, J.Harnisch, A. A.Hatch, P.Haungs, A.Häußler, J.Helbing, K.Hellrung, J.Hermannsgabner, J.Heuermann, L.Heyer, N.Hickford, S.Hidvegi, A.Hill, C.Hill, G. C.Hmaid, R.Hoffman, K. D.Hori, S.Hoshina, K.Hostert, M.Hou, W.Huber, T.Hultqvist, K.Hünnefeld, M.Hussain, R.Hymon, K.Ishihara, A.Iwakiri, W.Jacquart, M.Jain, S.Janik, O.Jansson, M.Jeong, M.Jin, M.Jones, B. J. P.Kamp, N.Kang, D.Kang, W.Kang, X.Kappes, A.Kappesser, D.Kardum, L.Karg, T.Karl, M.Karle, A.Katil, A.Katz, U.Kauer, M.Kelley, J. L.Khanal, M.Zathul, A. KhateeKheirandish, A.Kiryluk, J.Klein, S. R.Kobayashi, Y.Kochocki, A.Koirala, R.Kolanoski, H.Kontrimas, T.Köpke, L.Kopper, C.Koskinen, D. J.Koundal, P.Kowalski, M.Kozynets, T.Krieger, N.Krishnamoorthi, J.Krishnan, T.Kruiswijk, K.Krupczak, E.Kumar, A.Kun, E.Kurahashi, N.Lad, N.Gualda, C. LagunasLamoureux, M.Larson, M. J.Lauber, F.Lazar, J. P.DeHolton, K. LeonardLeszczyńska, A.Liao, J.Lincetto, M.Liu, Y. T.Liubarska, M.Love, C.Lu, L.Lucarelli, F.Luszczak, W.Lyu, Y.Madsen, J.Magnus, E.Mahn, K. B. M.Makino, Y.Manao, E.Mancina, S.Mand, A.Sainte, W. MarieMariş, I. C.Marka, S.Marka, Z.Marsee, M.Martinez-Soler, I.Maruyama, R.Mayhew, F.McNally, F.Mead, J. V.Meagher, K.Mechbal, S.Medina, A.Meier, M.Merckx, Y.Merten, L.Mitchell, J.Montaruli, T.Moore, R. W.Morii, Y.Morse, R.Moulai, M.Mukherjee, T.Naab, R.Nakos, M.Naumann, U.Necker, J.Negi, A.Neste, L.Neumann, M.Niederhausen, H.Nisa, M. U.Noda, K.Noell, A.Novikov, A.Pollmann, A. ObertackeO'Dell, V.Olivas, A.Orsoe, R.Osborn, J.O'Sullivan, E.Palusova, V.Pandya, H.Park, N.Parker, G. K.Parrish, V.Paudel, E. N.Paul, L.Heros, C. Pérez de losPernice, T.Peterson, J.Pizzuto, A.Plum, M.Pontén, A.Popovych, Y.Rodriguez, M. PradoPries, B.Procter-Murphy, R.Przybylski, G. T.Pyras, L.Raab, C.Rack-Helleis, J.Rad, N.Ravn, M.Rawlins, K.Rechav, Z.Rehman, A.Resconi, E.Reusch, S.Rhode, W.Riedel, B.Rifaie, A.Roberts, E. J.Robertson, S.Rodan, S.Rongen, M.Rosted, A.Rott, C.Ruhe, T.Ruohan, L.Safa, I.Saffer, J.Salazar-Gallegos, D.Sampathkumar, P.Sandrock, A.Santander, M.Sarkar, S.Savelberg, J.Savina, P.Schaile, P.Schaufel, M.Schieler, H.Schindler, S.Schlickmann, L.Schlüter, B.Schlüter, F.Schmeisser, N.Schmidt, T.Schneider, J.Schröder, F. G.Schumacher, L.Schwirn, S.Sclafani, S.Seckel, D.Seen, L.Seikh, M.Seo, M.Seunarine, S.Myhr, P. A. SevleShah, R.Shefali, S.Shimizu, N.Silva, M.Skrzypek, B.Smithers, B.Snihur, R.Soedingrekso, J.Søgaard, A.Soldin, D.Soldin, P.Sommani, G.Spannfellner, C.Spiczak, G. M.Spiering, C.Stachurska, J.Stamatikos, M.Stanev, T.Stezelberger, T.Stürwald, T.Stuttard, T.Sullivan, G. W.Taboada, I.Ter-Antonyan, S.Terliuk, A.Thiesmeyer, M.Thompson, W. G.Thwaites, J.Tilav, S.Tollefson, K.Tönnis, C.Toscano, S.Tosi, D.Trettin, A.Elorrieta, M. A. UnlandUpadhyay, A. K.Upshaw, K.Vaidyanathan, A.Valtonen-Mattila, N.Vandenbroucke, J.van Eijndhoven, N.Vannerom, D.van Santen, J.Vara, J.Varsi, F.Veitch-Michaelis, J.Venugopal, M.Vereecken, M.Carrasco, S. VergaraVerpoest, S.Veske, D.Vijai, A.Walck, C.Wang, A.Weaver, C.Weigel, P.Weindl, A.Weldert, J.Wen, A. Y.Wendt, C.Werthebach, J.Weyrauch, M.Whitehorn, N.Wiebusch, C. H.Williams, D. R.Witthaus, L.Wolf, M.Wrede, G.Xu, X. W.Yanez, J. P.Yildizci, E.Yoshida, S.Young, R.Yu, F.Yu, S.Yuan, T.Zegarelli, A.Zhang, S.Zhang, Z.Zhelnin, P.Zilberman, P.Zimmerman, M.Drake, PabloSpira-Savett, ElizabethLusen, PiatraMori, Kaya
Academic Journal
Am J Hum Genet
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
American journal of human genetics, vol. 112, no. 4, pp. 808-828
Kaminska, K, Cancellieri, F, Quinodoz, M, Moye, A R, Bauwens, M, Lin, S, Janeschitz-Kriegl, L, Hayman, T, Barberán-Martínez, P, Schlaeger, R, Van den Broeck, F, Ávila Fernández, A, Fernández-Caballero, L, Perea-Romero, I, García-García, G, Salom, D, Mazzola, P, Zuleger, T, Poths, K, Haack, T B, Jacob, J, Vermeer, S, Terbeek, F, Feltgen, N, Moulin, A P, Koutroumanou, L, Papadakis, G, Browning, A C, Madhusudhan, S, Gränse, L, Banin, E, Sousa, A B, Coutinho Santos, L, Kuehlewein, L, De Angeli, P, Leroy, B P, Mahroo, O A, Sedgwick, F, Eden, J, Pfau, M, Andréasson, S, Scholl, H P N, Ayuso, C, Millán, J M, Sharon, D, Tsilimbaris, M K, Vaclavik, V, Tran, H V, Ben-Yosef, T, De Baere, E, Webster, A R, Arno, G, Sergouniotis, P I, Kohl, S, Santos, C & Rivolta, C 2025, 'Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy', American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2025.02.015
Academic Journal
Benita MendenRana D. Incebacak EltemurGerman DemidovMarc SturmJoohyun ParkChrisovalantou HuridouFlorian FathAstrid NümannAlexander BaumannIllja J. DietsClaudia DufkeMartin RegensburgerMaria RönnefarthVera WilkeNienke van OsStefan VielhaberTim W. RattayZacharias KohlSusana PeraltaPriscila Pereira SenaMelanie KellnerNadine WeissertAndreas TraschützLena ZeltnerKai BoelmansNatalie DeiningerLeon SchützCaspar GrossAna Beatriz Hinojosa AmayaKatrin RaupachHolger HengelFlorian HarmuthJakob AdmardIngrid BaderSarah BaumannFriedemann BenderAndrea BevotAlmut BischoffFelix BoschannRebecca BuchertDaniel BuchzikNicolas CasadeiClaudia B. CatarinoIsabell CordtsKirsten CremerMarion Doebler-NeumannNadja EhmkeMiriam ElbrachtRuth J. FalbThomas FeindtZofia FleszarLea GerstnerDieter GläserUte GrasshoffSarah GroschKathrin GrundmannAlexander GutschalkManja HaagaStefanie HayerUte HehrYorck HellenbroichWolfram HennBarbara HerrRebecca HerzogVeronka HorberJonas DeppeNadja KaiserChristiane KehrerMartin KehrerJan KernChristoph KeßlerKatharina KhullerHannah KlinkhammerUrania KotzaeridouPeter KrawitzMartina KreissHanna KüpperAlice KusterLucia LaugwitzAnne LesemannNadine LicheyTobias LindenBoris MacekJanine MaggElisabeth MangoldEva MankaIris MarquardtKarl MehnertDavid MengelSusanne MorlotBarbara Oehl-JaschkowitzMartje G. PaulyMelanie PhilippFlorentine RadelfahrMaren RautenbergAngelika RiessCarsten SaftBeate Schlotter-WeigelAxel SchmidtEva M. C. SchwaiboldVeronika SpahlingerStephanie SprangerKatharina Marie SteinerClaudia StendelAndreas ThiemeAndreas TzschachAna VelicSarah WiethoffCarlo WilkeStephan ZüchnerSimone ZittelSolve-RD consortiumRalf A. HusainMarcus DeschauerFelix DistelmaierAndreas DufkeHolm GraessnerBernhard HemmerHeike JacobiThomas KlockgetherThomas KlopstockXenia KobelevaGeorg-Christoph KorenkeAlma KuechlerGregor KuhlenbäumerIngo KurthHuu Phuc NguyenGilbert WunderlichKirsten E. ZeunerStephan KlebeMichaela Auer-GrumbachMichaela ButrynJürgen WinklerDagmar TimmannMatthis SynofzikBart van de WarrenburgRebecca SchüleLudger SchölsStephan OssowskiOlaf RiessJonasz J. WeberTobias B. Haack
Nature Communications, Vol 17, Iss 1 (2026)
Academic Journal
Kubisch, ChristianCogne, BenjaminRabin, RachelKessler, ElenaChappé, CélineBrugger, MelanieJorge, Alexander A.L.Short, JohnPosey, Jennifer E.Szakszon, KatalinBedeschi, Maria FrancescaYuan, BoBrunet, TheresaChong, Hey J.Poths, KarinJosifova, DraganaMaeding, NicoleSidlow, RichardNevay, Dayna-LynnMehta, LakshmiGangi, SilvanaPappas, JohnCope, HeidiSchrauwen, IsabelleHüning, IrinaBanka, SiddharthPowell-Hamilton, NinaLyon, Gholson J.Wieczorek, DagmarLeal, Suzanne M.Courtin, ThomasFernandes, EricaHarasink, Sue MoyerKamsteeg, Erik-JanAfenjar, AlexandraTan, Queenie K.G.Marchi, ElaineBrick, LaurenCardenas, PaulDeb, WallidWagner, MatiasSullivan, JenniferBegtrup, AmberPlatzer, KonradLessel, DavorOegema, RenskeMancardi, MargheritaKölbel, HeikeHaack, Tobias B.Kuechler, AlmaCapra, ValeriaFitzgerald, Kristi K.Baresic, AnjaChinn, Ivan K.Rezende, Raissa C.Odent, SylvieKozenko, MariyaMorel, Chantal F.Network, Undiagnosed DiseasesTolosa, EvaDubourg, ChristèleSebastian, JessicaKeren, BorisRobert, LeemaGoenka, AnuLessel, IvanaJin, Jay J.Gucsavas-Calikoglu, MugeChandler, Kate E.Scala, MarcelloRekab, AishaMadan-Khetarpal, SuneetaPerilla-Young, YezminLeppälä, Juhade la Calle-Martín, OscarConboy, ErinIsidor, BertrandGeorge-Abraham, Jaya K.Järvelä, IrmaMay, JonathanDilena, RobertinoAverdunk, LuisaLuu, Sharon M.Hanker, BrittaPastore, Matthew T.Strunk, DirkNigro, VincenzoElgizouli, MagdeldinIascone, MariaMenendez, BeatrizKalinauskiene, RutaBesnard, ThomasByrne, SusanRomano, FerruccioLupski, James R.Brager, RaeHadonou, Medard
Am J Hum Genet
American Journal of Human Genetics, 112, 2, pp. 394-413
Undiagnosed Diseases Network, Lessel, I, Baresic, A, Chinn, I K, May, J, Goenka, A, Chandler, K E, Posey, J E, Afenjar, A, Averdunk, L, Bedeschi, M F, Besnard, T, Brager, R, Brick, L, Brugger, M, Brunet, T, Byrne, S, Calle-Martín, O D L, Capra, V, Cardenas, P, Chappé, C, Chong, H J, Cogne, B, Conboy, E, Cope, H, Courtin, T, Deb, W, Dilena, R, Dubourg, C, Elgizouli, M, Fernandes, E, Fitzgerald, K K, Gangi, S, George-Abraham, J K, Gucsavas-Calikoglu, M, Haack, T B, Hadonou, M, Hanker, B, Hüning, I, Iascone, M, Isidor, B, Järvelä, I, Jin, J J, Jorge, A A L, Josifova, D, Kalinauskiene, R, Kamsteeg, E-J, Keren, B, Kessler, E, Kölbel, H & Banka, S 2025, 'DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders', American Journal of Human Genetics, vol. 112, no. 2, pp. 394-413. https://doi.org/10.1016/j.ajhg.2024.12.012
The American Journal of Human Genetics
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