학술논문


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'학술논문' 에서 검색결과 324건 | 목록 1~20
Academic Journal
Stamberger, HannahHammer, Trine B.Gardella, ElenaVlaskamp, Danique R.M.Bertelsen, BirgitteMandelstam, Simonede Lange, IrisZhang, JingMyers, Candace T.Fenger, ChristinaAfawi, ZaidAlmanza Fuerte, Edith P.Andrade, Danielle M.Balcik, YunusBen Zeev, BruriaBennett, Mark F.Berkovic, Samuel F.Isidor, BertrandBouman, ArjanBrilstra, EvaBusk, Øyvind L.Cairns, AnitaCaumes, RoselineChatron, NicolasDale, Russell C.de Geus, ChristaEdery, PatrickGill, DeepakGranild-Jensen, Jacob BieGunderson, LaurenGunning, BoudewijnHeimer, GaliHelle, Johan R.Hildebrand, Michael S.Hollingsworth, GeorgieKharytonov, VolodymyrKlee, Eric W.Koeleman, Bobby P.C.Koolen, David A.Korff, ChristianKüry, SébastienLesca, GaetanLev, DoritLeventer, Richard J.Mackay, Mark T.Macke, Erica L.McEntagart, MerielMohammad, Shekeeb S.Monin, PaulineMontomoli, MartinoMorava, EvaMoutton, SebastienMuir, Alison M.Parrini, ElenaProcopis, PeterRanza, EmmanuelleReed, LauraReif, Philipp S.Rosenow, FelixRossi, MassimilianoSadleir, Lynette G.Sadoway, TaraSchelhaas, Helenius J.Schneider, Amy L.Shah, KratiShalev, RuthSisodiya, Sanjay M.Smol, ThomasStumpel, Connie T.R.M.Stuurman, KyraSymonds, Joseph D.Mau-Them, Frederic TranVerbeek, NienkeVerhoeven, Judith S.Wallace, GeoffreyYosovich, KerenZarate, Yuri A.Zerem, AyeletZuberi, Sameer M.Guerrini, RenzoMefford, Heather C.Patel, ChiragZhang, Yue-HuaMøller, Rikke S.Scheffer, Ingrid E.
In Genetics in Medicine February 2021 23(2):363-373
Academic Journal
Allori, AlexanderAngrist, MishaAshley, PatriciaBidegain, MargaritaBoyd, BritaChambers, EileenCope, HeidiCotten, C. MichaelCurington, TheresaDavis, Erica E.Ellestad, SarahFisher, KimberleyFrench, AmandaGallentine, WilliamGoldberg, RonaldHill, KevinKansagra, SujayKatsanis, NicholasKatsanis, SaraKurtzberg, JoanneMarcus, JeffreyMcDonald, MarieMikati, MohammedMiller, StephenMurtha, AmyPerilla, YezminPizoli, CarolynPurves, ToddRoss, SherrySadeghpour, AzitaSmith, EdwardWiener, JohnHelbig, Katherine L.Lauerer, Robert J.Bahr, Jacqueline C.Souza, Ivana A.Myers, Candace T.Uysal, BetülSchwarz, NiklasGandini, Maria A.Huang, SunKeren, BorisMignot, CyrilAfenjar, AlexandraBillette de Villemeur, ThierryHéron, DelphineNava, CarolineValence, StéphanieBuratti, JulienFagerberg, Christina R.Soerensen, Kristina P.Kibaek, MariaKamsteeg, Erik-JanKoolen, David A.Gunning, BoudewijnSchelhaas, H. JurgenKruer, Michael C.Fox, JordanaBakhtiari, SomayehJarrar, RandaPadilla-Lopez, SergioLindstrom, KristinJin, Sheng ChihZeng, XueBilguvar, KayaPapavasileiou, AntigoneXing, QingheZhu, ChanglianBoysen, KatjaVairo, FilippoLanpher, Brendan C.Klee, Eric W.Tillema, Jan-MendeltPayne, Eric T.Cousin, Margot A.Kruisselbrink, Teresa M.Wick, Myra J.Baker, JoshuaHaan, EricSmith, NicholasCorbett, Mark A.MacLennan, Alastair H.Gecz, JozefBiskup, SaskiaGoldmann, EvaRodan, Lance H.Kichula, ElizabethSegal, EricJackson, Kelly E.Asamoah, AlexanderDimmock, DavidMcCarrier, JulieBotto, Lorenzo D.Filloux, FrancisTvrdik, TatianaCascino, Gregory D.Klingerman, SherryNeumann, CatherineWang, RaymondJacobsen, Jessie C.Nolan, Melinda A.Snell, Russell G.Lehnert, KlausSadleir, Lynette G.Anderlid, Britt-MarieKvarnung, MalinGuerrini, RenzoFriez, Michael J.Lyons, Michael J.Leonhard, JenniferKringlen, GabrielCasas, KariEl Achkar, Christelle M.Smith, Lacey A.Rotenberg, AlexanderPoduri, AnnapurnaSanchis-Juan, AlbaCarss, Keren J.Rankin, JuliaZeman, AdamRaymond, F. LucyBlyth, MoiraKerr, BronwynRuiz, KarlaUrquhart, JillHughes, ImeldaBanka, SiddharthHedrich, Ulrike B.S.Scheffer, Ingrid E.Helbig, IngoZamponi, Gerald W.Lerche, HolgerMefford, Heather C.
In The American Journal of Human Genetics 1 November 2018 103(5):666-678
Academic Journal
Vincenzo SalpietroChristine L. DixonHui GuoOscar D. BelloJana VandrovcovaStephanie EfthymiouReza MaroofianGali HeimerLydie BurglenStephanie ValenceErin TortiMoritz HackeJulia RankinHuma TariqEstelle ColinVincent ProcaccioPasquale StrianoKshitij MankadAndreas LiebSharon ChenLaura PisaniConceicao BettencourtRoope MännikköAndreea ManoleAlfredo BruscoEnrico GrossoGiovanni Battista FerreroJudith Armstrong-MoronSophie GuedenOmer Bar-YosefMichal TzadokKristin G. MonaghanTeresa Santiago-SimRichard E. PersonMegan T. ChoRebecca WillaertYongjin YooJong-Hee ChaeYingting QuanHuidan WuTianyun WangRaphael A. BernierKun XiaAlyssa BlessonMahim JainMohammad M. MotazackerBregje JaegerAmy L. SchneiderKatja BoysenAlison M. MuirCandace T. MyersRalitza H. GavrilovaLauren GundersonLaura Schultz-RogersEric W. KleeDavid DymentMatthew OsmondMara ParelladaCloe LlorenteJavier Gonzalez-PeñasAngel CarracedoArie Van HaeringenClaudia RuivenkampCaroline NavaDelphine HeronRosaria NardelloMichele IacominoCarlo MinettiAldo SkabarAntonella FabrettoSYNAPS Study GroupMiquel Raspall-ChaureMichael ChezAnne TsaiEmily FassiMarwan ShinawiJohn N. ConstantinoRita De ZorziSara FortunaFernando KokBoris KerenDominique BonneauMurim ChoiBruria BenzeevFederico ZaraHeather C. MeffordIngrid E. SchefferJill Clayton-SmithAlfons MacayaJames E. RothmanEvan E. EichlerDimitri M. KullmannHenry Houlden
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Academic Journal
Brain
Galizia, E C, Myers, C T, Leu, C, de Kovel, C G F, Afrikanova, T, Cordero-Maldonado, M L, Martins, T G, Jacmin, M, Drury, S, Krishna Chinthapalli, V, Muhle, H, Pendziwiat, M, Sander, T, Ruppert, A-K, Møller, R S, Thiele, H, Krause, R, Schubert, J, Lehesjoki, A-E, Nürnberg, P, Lerche, H, Palotie, A, Coppola, A, Striano, S, Gaudio, L D, Boustred, C, Schneider, A L, Lench, N, Jocic-Jakubi, B, Covanis, A, Capovilla, G, Veggiotti, P, Piccioli, M, Parisi, P, Cantonetti, L, Sadleir, L G, Mullen, S A, Berkovic, S F, Stephani, U, Helbig, I, Crawford, A D, Esguerra, C V, Kasteleijn-Nolst Trenité, D G A, Koeleman, B P C, Mefford, H C, Scheffer, I E, Sisodiya, S M & EuroEPINOMICS CoGIE Consortium 2015, ' CHD2 variants are a risk factor for photosensitivity in epilepsy ', Brain, vol. 138, no. 5, pp. 1198-1208 . https://doi.org/10.1093/brain/awv052
Academic Journal
Hamdan, Fadi F.Myers, Candace T.Cossette, PatrickLemay, PhilippeSpiegelman, DanLaporte, Alexandre DionneNassif, ChristinaDiallo, OusmaneMonlong, JeanCadieux-Dion, MaximeDobrzeniecka, SylviaMeloche, CarolineRetterer, KyleCho, Megan T.Rosenfeld, Jill A.Bi, WeiminMassicotte, ChristineMiguet, MargueriteBrunga, LediaRegan, Brigid M.Mo, KellyTam, CorySchneider, AmyHollingsworth, GeorgieFitzPatrick, David R.Donaldson, AlanCanham, NatalieBlair, EdwardKerr, BronwynFry, Andrew E.Thomas, Rhys H.Shelagh, JossHurst, Jane A.Brittain, HelenBlyth, MoiraLebel, Robert RogerGerkes, Erica H.Davis-Keppen, LauraStein, QuinnChung, Wendy K.Dorison, Sara J.Benke, Paul J.Fassi, EmilyCorsten-Janssen, NicoleKamsteeg, Erik-JanMau-Them, Frederic T.Bruel, Ange-LineVerloes, AlainÕunap, KatrinWojcik, Monica H.Albert, Dara V.F.Venkateswaran, SunitaWare, TysonJones, DeanLiu, Yu-ChiMohammad, Shekeeb S.Bizargity, PeymanBacino, Carlos A.Leuzzi, VincenzoMartinelli, SimoneDallapiccola, BrunoTartaglia, MarcoBlumkin, LubovWierenga, Klaas J.Purcarin, GabrielaO’Byrne, James J.Stockler, SylviaLehman, AnnaKeren, BorisNougues, Marie-ChristineMignot, CyrilAuvin, StéphaneNava, CarolineHiatt, Susan M.Bebin, MartinaShao, YunruScaglia, FernandoLalani, Seema R.Frye, Richard E.Jarjour, Imad T.Jacques, StéphanieBoucher, Renee-MyriamRiou, EmilieSrour, MyriamCarmant, LionelLortie, AnneMajor, PhilippeDiadori, PaolaDubeau, FrançoisD’Anjou, GuyBourque, GuillaumeBerkovic, Samuel F.Sadleir, Lynette G.Campeau, Philippe M.Kibar, ZohaLafrenière, Ronald G.Girard, Simon L.Mercimek-Mahmutoglu, SaadetBoelman, CyrusRouleau, Guy A.Scheffer, Ingrid E.Mefford, Heather C.Andrade, Danielle M.Rossignol, ElsaMinassian, Berge A.Michaud, Jacques L.
In The American Journal of Human Genetics 2 November 2017 101(5):664-685
Academic Journal
J Med Genet
Journal of Medical Genetics
Journal of medical genetics
de Lange, I M, Helbig, K L, Weckhuysen, S, Møller, R S, Velinov, M, Dolzhanskaya, N, Marsh, E, Helbig, I, Devinsky, O, Tang, S, Mefford, H C, Myers, C T, van Paesschen, W, Striano, P, van Gassen, K, van Kempen, M, de Kovel, C G F, Piard, J, Minassian, B A, Nezarati, M M, Pessoa, A, Jacquette, A, Maher, B, Balestrini, S, Sisodiya, S, Warde, M T A, De St Martin, A, Chelly, J, EuroEPINOMICS-RES MAE working group, van 't Slot, R, Van Maldergem, L, Brilstra, E H & Koeleman, B P C 2016, ' De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy ', Journal of Medical Genetics, vol. 53, no. 12, pp. 850-858 . https://doi.org/10.1136/jmedgenet-2016-103909
Academic Journal
European Journal of Human Genetics, Vol. 24, No 12 (2016) pp. 1761-1770
Rudolf, G, Lesca, G, Mehrjouy, M M, Labalme, A, Salmi, M, Bache, I, Bruneau, N, Pendziwiat, M, Fluss, J, de Bellescize, J, Scholly, J, Møller, R S, Craiu, D, Tommerup, N, Valenti-Hirsch, M P, Schluth-Bolard, C, Sloan-Béna, F, Helbig, K L, Weckhuysen, S, Edery, P, Coulbaut, S, Abbas, M, Scheffer, I E, Tang, S, Myers, C T, Stamberger, H, Carvill, G L, Shinde, D N, Mefford, H C, Neagu, E, Huether, R, Lu, H-M, Dica, A, Cohen, J S, Iliescu, C, Pomeran, C, Rubenstein, J, Helbig, I, Sanlaville, D, Hirsch, E & Szepetowski, P 2016, ' Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy ', European Journal of Human Genetics, vol. 24, pp. 1761-1770 . https://doi.org/10.1038/ejhg.2016.80
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[검색어] Myers, Candace T
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