학술논문


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'학술논문' 에서 검색결과 707건 | 목록 1~20
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
Academic Journal
Steven LaurieWouter SteyaertElke de BoerKiran PolavarapuNika SchuermansAnna K. SommerGerman DemidovKornelia EllwangerIda ParamonovColine ThomasStefan AretzJonathan BaetsElisa BenettiGemma BullichPatrick F. ChinneryJill Clayton-SmithEnzo CohenDaniel DanisJean-Madeleine de Sainte AgatheAnne-Sophie Denommé-PichonJordi Diaz-ManeraStephanie EfthymiouLaurence FaivreMarcos Fernandez-CallejoMallory FreebergJosé Garcia-PelaezLena Guillot-NoelTobias B. HaackMike HannaHolger HengelRita HorvathHenry HouldenAdam JacksonLennart JohanssonMridul JohariErik-Jan KamsteegMelanie KellnerTjitske KleefstraDidier LacombeHanns LochmüllerEstrella López-MartínAlfons MacayaAnna Marcé-GrauAleš MaverHeba MorsyFrancesco MuntoniFrancesco MusacchiaIsabelle NelsonVincenzo NigroCatarina OlimpioCarla OliveiraJaroslava Paulasová SchwabováMartje G. PaulyBorut PeterlinSophia PetersRolph PfundtGiulio PilusoDavide PisciaManuel PosadaSelina ReichAlessandra RenieriLukas RybaKarolis ŠablauskasMarco SavareseLudger SchölsLeon SchützVerena Steinke-LangeGiovanni StevaninVolker StraubMarc SturmMorris A. SwertzMarco TartagliaIris B. A. W. te PaskeRachel ThompsonAnnalaura TorellaChristina TrainorBjarne UddLiedewei Van de VondelBart van de WarrenburgJeroen van ReeuwijkJana VandrovcovaAntonio VitobelloJanet VosEmílie VyhnálkováRobin WijngaardCarlo WilkeDoreen WilliamJishu XuBurcu YaldizLuca ZalatnaiBirte ZurekRicharda M. de VoerLisenka E. L. M. VissersAnthony J. BrookesTeresinha EvangelistaChristian GilissenHolm GraessnerNicoline HoogerbruggeStephan OssowskiOlaf RiessRebecca SchüleMatthis SynofzikAlain VerloesLeslie MatalongaHan G. BrunnerKatja LohmannAna TöpfLisenka E.L.M. VissersSergi BeltranAlexander Hoischen
Nat Med
Nature medicine 31(2), 478-489 (2025). doi:10.1038/s41591-024-03420-w
Nature Medicine, 31, 2, pp. 478-489
Nature medicine
Academic Journal
Steven LaurieWouter SteyaertElke de BoerKiran PolavarapuNika SchuermansAnna K. SommerGerman DemidovKornelia EllwangerIda ParamonovColine ThomasStefan AretzJonathan BaetsElisa BenettiGemma BullichPatrick F. ChinneryJill Clayton-SmithEnzo CohenDaniel DanisJean-Madeleine de Sainte AgatheAnne-Sophie Denommé-PichonJordi Diaz-ManeraStephanie EfthymiouLaurence FaivreMarcos Fernandez-CallejoMallory FreebergJosé Garcia-PelaezLena Guillot-NoelTobias B. HaackMike HannaHolger HengelRita HorvathHenry HouldenAdam JacksonLennart JohanssonMridul JohariErik-Jan KamsteegMelanie KellnerTjitske KleefstraDidier LacombeHanns LochmüllerEstrella López-MartínAlfons MacayaAnna Marcé-GrauAleš MaverHeba MorsyFrancesco MuntoniFrancesco MusacchiaIsabelle NelsonVincenzo NigroCatarina OlimpioCarla OliveiraJaroslava Paulasová SchwabováMartje G. PaulyBorut PeterlinSophia PetersRolph PfundtGiulio PilusoDavide PisciaManuel PosadaSelina ReichAlessandra RenieriLukas RybaKarolis ŠablauskasMarco SavareseLudger SchölsLeon SchützVerena Steinke-LangeGiovanni StevaninVolker StraubMarc SturmMorris A. SwertzMarco TartagliaIris B. A. W. te PaskeRachel ThompsonAnnalaura TorellaChristina TrainorBjarne UddLiedewei Van de VondelBart van de WarrenburgJeroen van ReeuwijkJana VandrovcovaAntonio VitobelloJanet VosEmílie VyhnálkováRobin WijngaardCarlo WilkeDoreen WilliamJishu XuBurcu YaldizLuca ZalatnaiBirte ZurekRicharda M. de VoerNicoline HoogerbruggeOlaf RiessAlain VerloesLisenka E.L.M. VissersTeresinha EvangelistaAna TöpfHolm GraessnerKatja LohmannRebecca SchüleMatthis SynofzikSergi BeltranChristian GilissenAnthony J. BrookesHan G. BrunnerAlexander HoischenLeslie MatalongaStephan Ossowski
Nat Med
Nature medicine 31(8), 2819-2820 (2025). doi:10.1038/s41591-025-03754-z
Academic Journal
Brain
Brain, 148, 2, pp. 597-612
Möller, B, Becker, L L, Saffari, A, Afenjar, A, Coci, E G, Williamson, R, Ward-Melver, C, Gibaud, M, Sedláčková, L, Laššuthová, P, Libá, Z, Vlčková, M, William, N, Klee, E W, Gavrilova, R H, Lévy, J, Capri, Y, Scavina, M, Körner, R W, Valivullah, Z, Weiß, C, Möller, G M, Frazier, Z, Roberts, A, Gener, B, Scala, M, Striano, P, Zara, F, Thiel, M, Sinnema, M, Kamsteeg, E J, Donkervoort, S, Duboc, V, Zaafrane-Khachnaoui, K, Elkhateeb, N, Selim, L, Margot, H, Marin, V, Beneteau, C, Isidor, B, Cogne, B, Keren, B, Küsters, B, Beggs, A H, Sveden, A, Chopra, M, Genetti, C A, Nicolai, J, Dötsch, J, Koy, A, Bönnemann, C G, von der Hagen, M, von Kleist-Retzow, J C, Voermans, N C, Jungbluth, H & Dafsari, H S 2025, 'The expanding clinical and genetic spectrum of DYNC1H1-related disorders', Brain, vol. 148, no. 2, pp. 597-612. https://doi.org/10.1093/brain/awae183
Academic Journal
Ana TöpfDan CoxIrina T. ZaharievaValeria Di LeoJaakko SarparantaPer Harald JonsonIan M. SealyAndrei SmolnikovRichard J. WhiteAnna ViholaMarco SavareseMunise MerterogluNeha WaliKristen M. LaricchiaCristina VenturiniBas VrolingSarah L. StentonBeryl B. CummingsElizabeth HarrisChiara Marini-BettoloJordi Diaz-ManeraMatt HendersonRita BarresiJennifer DuffEleina M. EnglandJane PatrickSundos Al-HusayniValerie BiancalanaAlan H. BeggsIstvan BodiShobhana BommireddipalliCarsten G. BönnemannAnita CairnsMei-Ting ChiewKristl G. ClaeysSandra T. CooperMark R. DavisSandra DonkervoortCorrie E. ErasmusMahmoud R. FassadCasie A. GenettiCarla GrosmannHeinz JungbluthErik-Jan KamsteegXavière LornageWolfgang N. LöscherEdoardo MalfattiAdnan ManzurPilar MartíTiziana E. MonginiNuria MuelasAtsuko NishikawaAnne O’Donnell-LuriaNarumi OgonukiGina L. O’GradyEmily O’HeirStéphanie PaquayRahul PhadkeBeth A. PletcherNorma B. RomeroMeyke SchoutenSnehal ShahIzelle SmutsYves SznajerGiorgio TascaRobert W. TaylorAllysa TuitePeter Van den BerghGrace VanNoyNicol C. VoermansJulia V. WanschitzElizabeth WraigeKimihiko YoshimuraEmily C. OatesOsamu NakagawaIchizo NishinoJocelyn LaporteJuan J. VilchezDaniel G. MacArthurAnna SarkozyHeather J. CordellBjarne UddElisabeth M. Busch-NentwichFrancesco MuntoniVolker Straub
Nat Genet
NATURE 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)
Nature Genetics, 56, 3, pp. 395-407
Nature genetics
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
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[검색어] Kamsteeg, Erik-Jan
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