학술논문


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'학술논문' 에서 검색결과 319건 | 목록 1~20
Academic Journal
Küry, SébastienStanton, Janelle E.van Woerden, Geeske M.Bosc-Rosati, AmélieHsieh, Tzung-ChienBray, LiseOloudé, MarielleRosenfelt, CoryScott-Boyer, Marie PierMost, VictoriaWang, TianyunPapendorf, Jonas J.de Konink, CharlotteDeb, WallidVignard, VirginieStudencka-Turski, MajaBesnard, ThomasHajdukowicz, Anna M.Thiel, Franziska G.Wolfgramm, SophieFlorenceau, LaëtitiaCuinat, SilvestreMarsac, SylvainVerrès, YannDangoumau, AudreyPoirier, LéaWentzensen, Ingrid M.Tuttle, AnnabelleForster, CaraStriesow, JohannaGolnik, RichardOrtiz, DamaraJenkins, LauraRosenfeld, Jill A.Ziegler, AlbanHoudayer, ClaraBonneau, DominiqueTorti, ErinBegtrup, AmberMonaghan, Kristin G.Mullegama, Sureni V.Volker-Touw, Catharina M. L. Nienkevan Gassen, Koen L. I.Oegema, Renskede Pagter, Mirjam S.Steindl, KatharinaRauch, AnitaIvanovski, IvanMcDonald, KimberlyBoothe, EmilyDauber, AndrewBaker, JaniceFabie, Noelle Andrea V.Bernier, Raphael A.Turner, Tychele N.Srivastava, SiddharthDies, Kira A.Swanson, Lindsay C.Costin, CarrieAbdulrazak, AlaliJobling, Rebekah K.Pappas, JohnRabin, RachelNiyazov, DmitriyChun-Hui Tsai, AnneKovak, KarenBeck, David B.Malicdan, May Christine V.Adams, David R.Wolfe, LynneGanetzky, Rebecca D.Muraresku, Colleen C.Babikyan, DavitSedláček, ZdeněkHančárová, MiroslavaTimberlake, Andrew T.Saif, Hind AlNestler, BerkleyKing, KaylaHajianpour, MJCostain, GregoryPrendergast, D’ArcyLi, ChumeiGeneviève, DavidVitobello, AntonioSorlin, ArthurPhilippe, ChristopheHarel, TamarToker, OriSabir, AtafLim, DerekHamilton, Mark J.Bryson, Lisa J.Cleary, ElaineWeber, SachaHoffman, Trevor L.Cueto-González, Anna M.Tizzano, Eduardo F.Gómez-Andrés, DavidCodina-Solà, MartaVerveri, AthinaPavlidou, EfterpiLambropoulos, AlexandrosGarganis, KyriakosRio, MarlèneLevy, JonathanLangas, Sarah J.McRae, Anne M.Lessard, Mathieu K.D’Agostino, Maria DanielaDe Bie, IsabelleWegler, MeretAbou Jamra, RamiKamphausen, Susanne B.Bothe, ViktoriaPotocki, LorraineOlinger, EricSznajer, YvesWiame, ElsaThompson, Michelle L.Schroeder, Molly C.Gooch, CatherineSmith, Raphael A.Pandya, ArtiBusch, Larissa M.Völker, UweHammer, ElkeWende, KristianCogné, BenjaminIsidor, BertrandMeiler, JensRipoll, ClémentineBigou, StéphanieLaumonnier, FrédéricHildebrand, Peter W.Eichler, Evan E.McWalter, KirstyKrawitz, Peter M.Roux-Dalvai, FlorenceElgersma, YpeMarcoux, JulienBousquet, Marie-PierreDroit, ArnaudPoschmann, JeremieGrabrucker, Andreas M.Bolduc, Francois V.Bézieau, StéphaneEbstein, FrédéricKrüger, Elke
Nature Communications. 16(1)
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
Cali, ElisaQuirin, TaniaRocca, ClarissaEfthymiou, StephanieRiva, AntonellaMarafi, DanaZaki, Maha S.Suri, MohnishDominguez, RobertoElbendary, Hasnaa M.Alavi, ShahryarAbdel-Hamid, Mohamed S.Morsy, HebaMau-Them, Frederic TranNizon, MathildeTesner, PavelRyba, LukášZafar, FaisalRana, NuzhatSaadi, Nebal W.Firoozfar, ZahraGencpinar, PinarUnay, BulentUstun, CananBruel, Ange-LineCoubes, ChristineStefanich, JenniferSezer, OzlemAgolini, EmanueleNovelli, AntonioVasco, GessicaLettori, DonatellaMilh, MathieuVillard, LaurentZeidler, ShimrietOpperman, HenryStrehlow, VincentIssa, Mahmoud Y.El Khassab, HebatallahChand, PremIbrahim, ShahnazNejad-Rashidi, AliMiryounesi, MohammadLarki, PegahMorrison, JenniferCristian, IngridThiffault, IsabelleBertsch, Nicole L.Noh, Grace J.Pappas, JohnMoran, EllenMarinakis, Nikolaos M.Traeger-Synodinos, JoanneHosseini, SusanAbbaszadegan, Mohammad RezaCaumes, RoselineVissers, Lisenka E.L.M.Neshatdoust, MaedehMontazer, Mostafa ZohourEl Fahime, ElmostafaCanavati, ChristinKamal, LaraKanaan, MoienAskander, OmarVoinova, VictoriaLevchenko, OlgaHaider, ShahzhadHalbach, Sara S.Maia, Elias RayanaMansoor, SalehiVivek, JainTawde, SanjuktaChalla, Viveka Santhosh R.Gowda, Vykuntaraju K.Srinivasan, Varunvenkat M.Victor, Lucas AlvesPinero-Banos, BenitoHague, JenniferEi-Awady, Heba AhmedMaria de Miranda Henriques-Souza, AdeliaCheema, Huma ArshadAnjum, Muhammad NadeemIdkaidak, SaraAlqarajeh, FirasAtawneh, OsamaMor-Shaked, HagarHarel, TamarZifarelli, GiovanniBauer, PeterKok, FernandoKitajima, Joao PauloMonteiro, FabiolaJosahkian, JulianaLesca, GaetanChatron, NicolasVille, DorotheMurphy, DavidNeul, Jeffrey L.Mullegama, Sureni V.Begtrup, AmberHerman, IsabellaMitani, TadahiroPosey, Jennifer E.Tay, Chee GeapJaved, IramCarr, LucindaKanani, FarahBeecroft, FionaHane, LeeAbdelkreem, ElsayedMacek, MilanBispo, LucianaElmaksoud, Marwa AbdHashemi-Gorji, FarzadPehlivan, DavutAmor, David J.Jamra, Rami AbouChung, Wendy K.Ghayoor, Eshan KarimianiCampeau, PhilippeAlkuraya, Fowzan S.Pagnamenta, Alistair T.Gleeson, JosephLupski, James R.Striano, PasqualeMoreno-De-Luca, AndresLafontaine, Denis L.J.Houlden, HenryMaroofian, Reza
In Genetics in Medicine September 2024
Academic Journal
Am J Hum Genet
The American journal of human genetics 108(6), 1069-1082 (2021). doi:10.1016/j.ajhg.2021.04.024
Care4Rare Canada Consortium 2021, 'Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder', American Journal of Human Genetics, vol. 108, no. 6, pp. 1069-1082. https://doi.org/10.1016/j.ajhg.2021.04.024
American Journal of Human Genetics, vol 108, iss 6
The American Journal of Human Genetics
Academic Journal
Genet Med
Begemann, A, Sticht, H, Begtrup, A, Vitobello, A, Faivre, L, Banka, S, Alhaddad, B, Asadollahi, R, Becker, J, Bierhals, T, Brown, KE, Bruel, AL, Brunet, T & Rauch, A 2020, 'New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.', Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1038/s41436-020-01011-x
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