학술논문


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'학술논문' 에서 검색결과 217건 | 목록 1~20
Academic Journal
Nava, CarolineCogne, BenjaminSantini, AmandineLeitão, ElsaLecoquierre, FrançoisChen, YuyangStenton, Sarah L.Besnard, ThomasHeide, SolveigBaer, SarahJakhar, AbhilashaNeuser, SonjaKeren, BorisFaudet, AnneForlani, SylvieFaoucher, MarieUguen, KevinPlatzer, KonradAfenjar, AlexandraAlessandri, Jean-LucAndres, StephanieAngelini, ChloéAral, BernardArveiler, BenoitAttie-Bitach, TaniaAubert Mucca, MarionBanneau, GuillaumeBarakat, Tahsin StefanBarcia, GiuliaBaulac, StéphanieBeneteau, ClaireBenkerdou, FouziaBernard, VirginieBézieau, StéphaneBonneau, DominiqueBonnet-Dupeyron, Marie-NoelleBoussion, SimonBoute, OdileBrischoux-Boucher, EliseBryen, Samantha J.Buratti, JulienBusa, TiffanyCaliebe, AlmuthCapri, YlineCassinari, KévinCaumes, RoselineCenni, CamilleChambon, PascalCharles, PerrineChristodoulou, JohnColson, CindyConrad, SolèneCospain, AurianeCoursimault, JulietteCourtin, ThomasCouse, MadelineCoutton, CharlesCreveaux, IsabelleD’Gama, Alissa M.Dauriat, Benjaminde Sainte Agathe, Jean-MadeleineDel Gobbo, GiuliaDelahaye-Duriez, AndréeDelanne, JulianDenommé-Pichon, Anne-SophieDieux-Coeslier, AnneDo Souto Ferreira, LauraDoco-Fenzy, MartineDrukewitz, StephanDuboc, VéroniqueDubourg, ChristèleDuffourd, YannisDyment, DavidEl Chehadeh, SalimaElmaleh, MoniqueFaivre, LaurenceFennelly, SamuelFischer, HannaFradin, MélanieGalludec Vaillant, CamilleGanne, BenjaminGhoumid, JamalGoel, HimanshuGokce-Samar, ZeynepGoldenberg, AliceGonfreville Robert, RomainGorokhova, SvetlanaGoujon, LouiseGranier, VictoriaGras, MathildeGreally, John M.Greiten, BiancaGueguen, PaulGuerrot, Anne-MarieGuha, SauravGuimier, AnneHaack, Tobias B.Hadj Abdallah, HamzaHalleb, YosraHarbuz, RaduHarris, MadeleineHentschel, JuliaHéron, BénédicteHitz, Marc-PhillipInnes, A. MicheilJadas, VincentJanuel, LouisJean-Marçais, NolwennJobanputra, VaidehiJobic, FlorenceJornea, LudmilaJost, CélineJulia, SophieKaiser, Frank J.Kaschta, DanielKaya, SabineKetteler, PetraKhadija, BochraKilpert, FabianKnopp, CordulaKraft, FlorianKrey, IlonaLackmy, MarilynLaffargue, FannyLambert, LaetitiaLamont, RyanLaugel, VincentLaurie, StevenLauzon, Julie L.Lebreton, LouisLebrun, MarineLegendre, MarineLeguern, EricLehalle, DaphnéLejeune, ElodieLesca, GaetanLesieur-Sebellin, MarionLevy, JonathanLinglart, AgnèsLyonnet, StanislasLüthy, KevinMa, Alan S.Mach, CorinneMandel, Jean-LouisMansour-Hendili, LamisseMarcadier, JulienMarin, VictorMargot, HenriMarquet, ValentineMay, AngèleMayr, Johannes A.Meridda, CatherineMichaud, VincentMichot, CarolineNadeau, GwenaelNaudion, SophieNguyen, LaetitiaNizon, MathildeNowak, FrédériqueOdent, SylvieOlin, ValerieOsei-Owusu, Ikeoluwa A.Osmond, MatthewÕunap, KatrinPasquier, LaurentPassemard, SandrinePauly, MelissaPatat, OlivierPensec, MarinePerrin-Sabourin, LaurencePetit, FlorencePhilippe, ChristophePlanes, MarcPoduri, AnnapurnaPoirsier, CélinePouzet, AntoinePrince, BradleyProuteau, ClémentPujol, AuroraRacine, CarolineRama, MélanieRamond, FrancisRanguin, KaraRaway, MargauxReis, AndréRenaud, MathildeRevencu, NicoleRichard, Anne-ClaireRiera-Navarro, LucileRius, RocioRodriguez, DianaRodriguez-Palmero, AgustíRondeau, SophieRoser-Unruh, AnnikaRougeot Jung, ChristelleSafraou, HanaSatre, VéroniqueSaugier-Veber, PascaleSauvestre, ClémentSchaefer, EliseShao, WanqingSchanze, InaSchlump, Jan-UlrichSchlüter Martin, AgathaSchluth-Bolard, CarolineSchuhmann, SarahSchröder, ChristopherSebastin, MonishaSigaudy, SabineSpielmann, MalteSpodenkiewicz, MartaSt Clair, LauraSteffann, JulieStoeva, RadkaSurowy, HaraldTarnopolsky, Mark A.Todosi, CalinaToutain, AnnickTran Mau-Them, FrédéricUnterlauft, AstridVan-Gils, JulienVanlerberghe, ClémenceVasileiou, GeorgiaVera, GabriellaVerdel, AndréVerloes, AlainVial, YoannVignal, CédricVincent, MarieVincent-Delorme, CatherineVincent-Devulder, AlineVitobello, AntonioWeber, SachaWillems, MarjolaineZaafrane-Khachnaoui, KhaoulaZacher, PiaZeltner, LenaZiegler, AlbanGalej, Wojciech P.Dollfus, HélèneThauvin, ChristelBoycott, Kym M.Marijon, PierreLermine, AlbanMalan, ValérieRio, MarlèneKuechler, AlmaIsidor, BertrandDrunat, SéverineSmol, ThomasChatron, NicolasPiton, AmélieNicolas, GaelWagner, MatiasAbou Jamra, RamiHéron, DelphineMignot, CyrilBlanc, PierreO’Donnell-Luria, AnneWhiffin, NicolaCharbonnier, CamilleCharenton, ClémentThevenon, JulienDepienne, Christel
Nature Genetics. :1-15
Academic Journal
Zagorec, NikolaCalamel, AlizéeDelaporte, MargauxOlinger, EricOrr, SarahSayer, John A.Pillay, Vignesh-GuruDenommé-Pichon, Anne-SophieTran Mau-Them, FredericNambot, SophieFaivre, LaurenceArs, ElisabetTorra, RoserOng, Albert C.M.Devuyst, OlivierPerico, NobertoDesprés, Aurore MichelLemoine, Hugode Fallois, JonathanBrousse, RomainHummel, AurélieKnebelmann, BertrandMaisonneuve, NathalieHalbritter, JanLe Meur, YannickAudrézet, Marie-PierreCornec-Le Gall, EmilieWinterbottom, JeanSimms, Roslyn J.Caroli, AnnaDemoulin, NathalieFurlano, MonicaPybus, MarcGansevoort, RonMeijer, EstherGrall, A.Moal, M.C.Tanquerel, T.Hanrotel, C.Segalen, I.Lanfranco, L.C, MesguenA, KersaleA, CapdevilleV, HuynhHourmant, M.Dantal, J.Giral, M.Meurette, A.Lino, M.Garandeau, C.Hodemon-Corne, B.Allain-Launay, E.Cantarovich, D.Blancho, G.Hristea, D.Couvrat, G.Fakhouri, F.Lavainne, F.Vercel, C.Chapal, M.Le Fur, A.Gourraud, C.Deltombe, C.Vigneau, C.Morin, M.P.Le Pogamp, P.Frouget, T.Gie, S.Rivalan, J.Laruelle, E.Richer, C.Lorcy, N.Golbin, L.Terrasse, M.Morice, S.Brenier, H.Michel, A.Tomkiewicz, E.Nguyen, Q.L.Vabret, E.Lavergne, A.Pierre, E.Chemouny, J.Halimi, J.M.Longuet, H.Gatault, P.Merieau, E.Barbet, C.Buchler, M.Golea, G.Ghouti, L.Gautard, D.Sautenet, B.François, M.Fournier, A.Baron, C.Salmon, C.Rabot, N.Prat, L.Valentin, J.F.Chevallier, E.Birmele, B.Genest, C.Goin, N.Goumard, A.Bridoux, F.Desport, E.Thierry, A.Ecotiere, L.Touchard, G.Belmouaz, M.Javaugue, V.Bauwens, M.Fride-Leroy, F.Goussard, G.Bouteau, I.Jacquemont, L.Subra, J.F.Augusto, J.F.Duveau, A.Besson, V.Cousin, M.Sayegh, J.Onno, C.Maghakian, M.N.Demiselle, J.Deschamps, C.Garnier, A.S.Guibert, F.Planchais, M.Charasse, C.Stanescu, C.Le Cacheux, P.Baluta, S.Leonetti, F.Boulahrouz, R.Ferrier, M.L.Freguin, C.Simon, A.Potier, J.Coulibaly, J.M.Colombo, A.Delezire, A.Renaudineau, E.Dolley-Hitze, T.Perrichot, R.Michez, E.Mandart, L.Menoyo, V.Pincon, E.Muresan, C.Durand, P.Y.Corlu, L.Wegner, I.Siohan, P.Metes, I.Guyon-Roger, T.Wehbe, B.Gueguen, L.Drouet, C.Loheac, C.Sawadogo, T.Le Guillou, A.Le Jeune, M.Beillard, G.Lefevre, S.Chamontin, C.Georgescu, S.Jousset, P.Latif, R.Massad, M.Jaulin, J.P.Querard, A.H.Ottavioli, J.N.Target, N.Chapal, A.Charpy, V.Besnier, D.Regnier-Le Coz, S.Blanpain, A.Durault, S.Larmet, D.Le Clech, A.Pouteau, L.M.Labatut, D.Coindre, J.P.Sigogne, M.Piccoli, G.Bachelet-Rousseau, C.Delbes, S.Fritz, O.Pourreau, F.Mzoughi, S.Guillodo, M.P.Gosselin, M.Depraetre, P.Strullu, B.Chaffara, E.Le Mee, M.Terki, N.Goulesque, K.Benarbia, S.Dimulescu, M.Rifaat, M.Duneau, G.Legrand, D.Georges, E.Seret, G.Babinet, F.Lanoiselee, S.Savoiu, C.Testa, A.Oancea, I.Coupel, I.Parahy, S.Lefrancois, G.Briand, E.Bugnon, D.Ambrose, John C.Arumugam, PrabhuBevers, RoelBleda, MartaBoustred, Christopher R.Brittain, HelenChan, Georgia C.Fowler, TomGiess, AdamHamblin, AngelaHubbard, Tim J.P.Jackson, RobKayikci, MelisKousathanas, AthanasiosLahnstein, LeaLeigh, Sarah E.A.Leong, Ivonne U.S.Lopez, Javier F.Maleady-Crowe, FionaMcEntagart, MerielMinneci, FedericoMurugaesu, NirupaO’Donovan, PeterOdhams, Chris A.Pereira, Mariana BuongerminoPerez-Gil, DanielPullinger, JohnRahim, TahrimaRendon, AugustoRogers, TimSavage, KevinSawant, KushmitaScott, Richard H.Siddiq, AfshanSieghart, AlexanderSmith, Samuel C.Stuckey, AlexanderTanguy, MélanieTaylor Tavares, Ana LisaThompson, Simon R.Welland, Matthew J.Williams, EleanorBoardman-Pretty, FreyaMoutsianas, LoukasMueller, MichaelCaulfield, Mark J.Elgar, GregHenderson, ShirleyJones, Louise J.Kasperaviciute, DaliaNeed, Anna C.Patch, ChristineSosinsky, AlonaThomas, Ellen R.A.Tucci, AriannaWitkowska, KatarzynaWood, Suzanne M.
American Journal of Kidney Diseases. 85(4):465-476
Academic Journal
Dekker, JordySchot, RachelAldinger, Kimberly A.Everman, David B.Washington, CamerunJones, Julie R.Sullivan, Jennifer A.Spillmann, Rebecca C.Shashi, VandanaVitobello, AntonioDenommé-Pichon, Anne-SophieMosca-Boidron, Anne-LaurePerrin, LaurenceAuvin, StéphaneZaki, Maha S.Gleeson, Joseph G.Meave, NaomiWallace, CassidyNambot, SophieDelanne, JulianRuggiero, Sarah M.Helbig, IngoFitzgerald, Mark P.Leventer, Richard J.Grange, Dorothy K.Argilli, EmanuelaSherr, Elliott H.Prakash, SuprajaNeilson, Derek E.Nicita, FrancescoSferra, AntonellaBertini, Enrico S.Aiello, ChiaraBrockmann, KnutKuranov, Alexander B.Kaulfuss, SilkeBasit, SulmanAlluqmani, MajedAlmatrafi, AhmadFriedman, Jan M.Guimond, ColleenMohammed, FaruqSharma, PoojaGoel, DivyaWirth, ThomasAnheim, MathieuBahena, PaulinaKoparir, AsumanKolokotronis, KonstantinosVona, BarbaraHaaf, ThomasKunstmann, ErdmuteMaroofian, RezaSczakiel, Henrike L.Boschann, FelixMisra-Isrie, MalaLouie, Raymond J.Stolerman, Elliot S.Sanchez-Lara, Pedro A.Mergler, SandraOegema, RenskeZarate, Yuri A.Kariminejad, ArianaTajsharghi, HomaZeidler, ShimrietKievit, Anneke J.A.Bouman, ArjanCappuccio, GerardaBrunetti-Pierri, NicolaStuurman, Kyra E.Swols, Dayna MorelTekin, MustafaUpadia, JariyaMartin, Donna M.Craven, DanielHiatt, Susan M.van de Pol, Laura A.D'Arco, FeliceMargot, HenriWilke, MartinaYousefi, SoheilBarakat, Tahsin Stefanvan Veghel-Plandsoen, Monique M.Aronica, EleonoraAnink, JasperRogers, Stephen L.Slep, Kevin C.Doherty, DanDobyns, William B.Mancini, Grazia M.S.
In The American Journal of Human Genetics 2 October 2025 112(10):2363-2380
Academic Journal
Maimuna S. PaulSydney L. MichenerHongling PanHiuling ChanJessica M. PfligerJill A. RosenfeldVanesa C. LermaAlyssa TranMegan A. LongleyRichard A. LewisMonika Weisz-HubshmanMir Reza BekheirniaNasim BekheirniaLauren MassinghamMichael ZechMatias WagnerHartmut EngelsKirsten CremerElisabeth MangoldSophia PetersJessica TrautmannClaudia PerneJessica L. MesterMaria J. Guillen SacotoRichard PersonPamela P. McDonnellStacey R. CohenLaina LuskAna S.A. CohenJean-Baptiste Le PichonTomi PastinenDihong ZhouKendra EnglemanCaroline RacineLaurence FaivreSébastien MouttonAnne-Sophie Denommé-PichonHyun Yong KohAnnapurna PoduriJeffrey BoltonCordula KnoppDong Sun Julia SuhAndrea MaierMehran Beiraghi ToosiEhsan Ghayoor KarimianiReza MaroofianGerald Bradley SchaeferVijayalakshmi RamakumaranPradeep VasudevanBenito Banos-PineroAlistair T. PagnamentaChitra PrasadMatthew OsmondSarah SchuhmannGeorgia VasileiouSophie Russ-HallIngrid E. SchefferGemma L. CarvillHeather MeffordMaria T. AcostaMargaret AdamDavid R. AdamsRaquel L. AlvarezJustin AlveyLaura AmendolaAshley AndrewsEuan A. AshleyCarlos A. BacinoGuney BademciAshok BalasubramanyamDustin BaldridgeJim BaleMichael BamshadDeborah BarbouthPinar Bayrak-ToydemirAnita BeckAlan H. BeggsEdward BehrensGill BejeranoHugo J. BellenJimmy BennettBeverly Berg-RoodJonathan A. BernsteinGerard T. BerryAnna BicanStephanie BivonaElizabeth BlueJohn BohnsackDevon BonnerLorenzo BottoBrenna BoydLauren C. BriereGabrielle BrownElizabeth A. BurkeLindsay C. BurrageManish J. ButtePeter ByersWilliam E. ByrdJohn CareyOlveen CarrasquilloThomas CassiniTa Chen Peter ChangSirisak ChanprasertHsiao-Tuan ChaoIvan ChinnGary D. ClarkTerra R. CoakleyLaurel A. CobbanJoy D. CoganMatthew CogginsF. Sessions ColeHeather A. ColleyHeidi CopeRosario CoronaWilliam J. CraigenAndrew B. CrouseMichael CunninghamPrecilla D’SouzaHongzheng DaiSurendra DasariJoie DavisJyoti G. DayalEsteban C. Dell'AngelicaKatrina DippleDaniel DohertyNaghmeh DorraniArgenia L. DossEmilie D. DouineDawn EarlDavid J. EcksteinLisa T. EmrickChristine M. EngMarni FalkElizabeth L. FiegPaul G. FisherBrent L. FogelIrman ForghaniWilliam A. GahlIan GlassBernadette GochuicoPage C. GoddardRena A. GodfreyKatie Golden-GrantAlana GrajewskiDon HadleySihoun HahnMeghan C. HalleyRizwan HamidKelly HasseyNichole HayesFrances HighAnne HingFuki M. HisamaIngrid A. HolmJason HomMartha Horike-PyneAlden HuangSarah HutchisonWendy IntroneRosario IsasiKosuke IzumiFariha JamalGail P. JarvikJeffrey JarvikSuman JayadevOrpa Jean-MarieVaidehi JobanputraLefkothea KaravitiShamika KetkarDana KileyGonench KilichShilpa N. KobrenIsaac S. KohaneJennefer N. KohlerSusan KorrickMary KozuiraDeborah KrakowDonna M. KrasnewichElijah KravetsSeema R. LalaniByron LamChristina LamBrendan C. LanpherIan R. LanzaKimberly LeBlancBrendan H. LeeRoy LevittPengfei LiuXue Zhong LiuNicola LongoSandra K. LooJoseph LoscalzoRichard L. MaasEllen F. MacnamaraCalum A. MacRaeValerie V. MaduroAudrey Stephannie MaghiroRachel MahoneyMay Christine V. MalicdanLaura A. MamounasTeri A. ManolioRong MaoKenneth MaravillaRonit MaromGabor MarthBeth A. MartinMartin G. MartinJulian A. Martínez-AgostoShruti MarwahaJacob McCauleyAllyn McConkie-RosellAlexa T. McCrayElisabeth McGeeJ. Lawrence MerrittMatthew MightGhayda MirzaaEva MoravaPaolo MorettiJohn MulvihillMariko Nakano-OkunoStanley F. NelsonJohn H. NewmanSarah K. NicholasDeborah NickersonShirley Nieves-RodriguezDonna NovacicDevin OglesbeeJames P. OrengoLaura PaceStephen PakJ. Carl PallaisChristina G.S. PalmerJeanette C. PappNeil H. ParkerJohn A. Phillips IIIJennifer E. PoseyLorraine PotockiBarbara N. Pusey SwerdzewskiAaron QuinlanDeepak A. RaoAnna RaperWendy RaskindGenecee RenteriaChloe M. ReuterLynette RivesAmy K. RobertsonLance H. RodanNatalie RosenwasserFrancis RossignolMaura RuzhnikovRalph SaccoJacinda B. SampsonMario SaportaJudy SchaechterTimothy SchedlKelly SchochDaryl A. ScottC. Ron ScottElaine SetoVandana ShashiJimann ShinEdwin K. SilvermanJanet S. SinsheimerKathy SiscoEdward C. SmithKevin S. SmithLilianna Solnica-KrezelBen SolomonRebecca C. SpillmannJoan M. StolerKathleen SullivanJennifer A. SullivanAngela SunShirley SuttonDavid A. SweetserVirginia SybertHolly K. TaborQueenie K.-G. TanAmelia L.M. TanArjun TarakadMustafa TekinFred TelischiWilla ThorsonCynthia J. TifftCamilo ToroAlyssa A. TranRachel A. UngarTiina K. UrvAdeline VanderverMatt VelinderDave ViskochilTiphanie P. VogelColleen E. WahlMelissa WalkerStephanie WallaceNicole M. WalleyJennifer WambachJijun WanLee-kai WangMichael F. WanglerPatricia A. WardDaniel WegnerMonika Weisz HubshmanMark WenerTara WengerMonte WesterfieldMatthew T. WheelerJordan WhitlockLynne A. WolfeKim WorleyChangrui XiaoShinya YamamotoJohn YangZhe ZhangStephan Zuchner
Am. J. Hum. Genet. 111, 96-118 (2024)
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
Epilepsia
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Kassabian, B, Levy, A M, Gardella, E, Aledo-Serrano, A, Ananth, A L, Brea-Fernández, A J, Caumes, R, Chatron, N, Dainelli, A, De Wachter, M, Denommé-Pichon, A-S, Dye, T J, Fazzi, E, Felt, R, Fernández-Jaén, A, Fernández-Prieto, M, Gantz, E, Gasperowicz, P, Gil-Nagel, A, Gómez-Andrés, D, Greiner, H M, Guerrini, R, Haanpää, M K, Helin, M, Hoyer, J, Hurst, A C E, Kallish, S, Karkare, S N, Khan, A, Kleinendorst, L, Koch, J, Kothare, S V, Koudijs, S V, Lagae, L, Lakeman, P, Leppig, K A, Lesca, G, Lopergolo, D, Lusk, L, Mackenzie, A, Mei, D, Møller, R S, Pereira, E M, Platzer, K, Quelin, C, Revah-Politi, A, Rheims, S, Rodríguez-Palmero, A, Rossi, A, Santorelli, F, Seinfeld, S, Sell, E, Stephenson, D, Szczaluba, K, Trinka, E, Umair, M, Van Esch, H, van Haelst, M M, Veenma, D C M, Weber, S, Weckhuysen, S, Zacher, P, Tümer, Z & Rubboli, G 2023, 'Developmental epileptic encephalopathy in DLG4-related synaptopathy', Epilepsia. https://doi.org/10.1111/epi.17876
Kassabian, B, Levy, A M, Gardella, E, Aledo-Serrano, A, Ananth, A L, Brea-Fernández, A J, Caumes, R, Chatron, N, Dainelli, A, De Wachter, M, Denommé-Pichon, A-S, Dye, T J, Fazzi, E, Felt, R, Fernández-Jaén, A, Fernández-Prieto, M, Gantz, E, Gasperowicz, P, Gil-Nagel, A, Gómez-Andrés, D, Greiner, H M, Guerrini, R, Haanpää, M K, Helin, M, Hoyer, J, Hurst, A C E, Kallish, S, Karkare, S N, Khan, A, Kleinendorst, L, Koch, J, Kothare, S V, Koudijs, S M, Lagae, L, Lakeman, P, Leppig, K A, Lesca, G, Lopergolo, D, Lusk, L, Mackenzie, A, Mei, D, Møller, R S, Pereira, E M, Platzer, K, Quelin, C, Revah-Politi, A, Rheims, S, Rodríguez-Palmero, A, Rossi, A, Santorelli, F, Seinfeld, S, Sell, E, Stephenson, D, Szczaluba, K, Trinka, E, Umair, M, Van Esch, H, van Haelst, M M, Veenma, D C M, Weber, S, Weckhuysen, S, Zacher, P, Tümer, Z & Rubboli, G 2024, ' Developmental epileptic encephalopathy in DLG4-related synaptopathy ', Epilepsia, vol. 65, no. 4, pp. 1029-1045 . https://doi.org/10.1111/epi.17876
Academic Journal
Schmetz, A, Lüdecke, H-J, Surowy, H, Sivalingam, S, Bruel, A-L, Caumes, R, Charles, P, Chatron, N, Chrzanowska, K, Codina-Solà, M, Colson, C, Cuscó, I, Denommé-Pichon, A-S, Edery, P, Faivre, L, Green, A, Heide, S, Hsieh, T-C, Hustinx, A, Kleinendorst, L, Knopp, C, Kraft, F, Krawitz, P M, Lasa-Aranzasti, A, Lesca, G, López-González, V, Maraval, J, Mignot, C, Neuhann, T, Netzer, C, Oehl-Jaschkowitz, B, Petit, F, Philippe, C, Posmyk, R, Putoux, A, Reis, A, Sánchez-Soler, M J, Suh, J, Tkemaladze, T, Tran Mau Them, F, Travessa, A, Trujillano, L, Valenzuela, I, van Haelst, M M, Vasileiou, G, Vincent-Delorme, C, Walther, M, Verde, P, Bramswig, N C & Wieczorek, D 2023, 'Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals', Human Genetics. https://doi.org/10.1007/s00439-023-02622-5
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
Academic Journal
Marcello ScalaMasashi NishikawaHidenori ItoHidenori TabataTayyaba KhanAndrea AccogliLaura DavidsAnna RuizPietro ChiurazziGabriella CericolaBjörn SchulteKristin G MonaghanAmber BegtrupAnnalaura TorellaMichele PinelliAnne Sophie Denommé-PichonAntonio VitobelloCaroline RacineMaria Margherita MancardiCourtney KissAndrea GuerinWendy WuElisabeth Gabau VilaBryan C MakJulian A Martinez-AgostoMichael B GorinBugrahan DuzYavuz BayramClaudia M B CarvalhoJaime E VengoecheaDavid ChitayatTiong Yang TanBert CallewaertBernd KruseLynne M BirdLaurence FaivreMarcella ZollinoSaskia BiskupGabrielle BrownManish J ButteEsteban C Dell'AngelicaNaghmeh DorraniEmilie D DouineBrent L FogelIrma GutierrezAlden HuangDeborah KrakowHane LeeSandra K LooMartin G MartinJulian A Martínez-AgostoElisabeth McGeeStanley F NelsonShirley Nieves-RodriguezChristina G S PalmerJeanette C PappNeil H ParkerGenecee RenteriaJanet S SinsheimerJijun WanLee-kai WangKatherine Wesseling PerryVincenzo NigroNicola Brunetti-PierriGiorgio CasariGerarda CappuccioFrancesco MusacchiaMargherita MutarelliDiego CarrellaGiuseppina VitielloValeria CapraGiancarlo ParentiVincenzo LeuzziAngelo SelicorniSilvia MaitzSandro BanfiMario MontomoliDonatelli MilaniCorrado RomanoAlbina TummoloDaniele De BrasiAntonietta CoppolaClaudia SantoroAngela PeronChiara PantaleoniRaffaele CastelloStefano D’ArrigoPasquale StrianoMariasavina SeverinoGregory CostainKoh ichi Nagata
Brain
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
BRAIN
r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
instname
Brain : a journal of neurology, vol 145, iss 9
Academic Journal
Engel, CamilleValence, StéphanieDelplancq, GeoffroyMaroofian, RezaAccogli, AndreaAgolini, EmanueleAlkuraya, Fowzan S.Baglioni, ValentinaBagnasco, IreneBecmeur-Lefebvre, MathildeBertini, EnricoBorggraefe, IngoBrischoux-Boucher, EliseBruel, Ange-LineBrusco, AlfredoBubshait, Dalal K.Cabrol, ChristelleCilio, Maria RobertaCornet, Marie-CoralieCoubes, ChristineDanhaive, OlivierDelague, ValérieDenommé-Pichon, Anne-SophieDi Giacomo, Marilena CarmelaDoco-Fenzy, MartineEngels, HartmutCremer, KirstenGérard, MarionGleeson, Joseph G.Heron, DelphineGoffeney, JoannaGuimier, AnneHarms, Frederike L.Houlden, HenryIacomino, MicheleKaiyrzhanov, RauanKamien, BenjaminKarimiani, Ehsan GhayoorKraus, DrorKuentz, PaulKutsche, KerstinLederer, DamienMassingham, LaurenMignot, CyrilMorris-Rosendahl, DéborahNagarajan, LakshmiOdent, SylvieOrmières, ClothildePartlow, Jennifer NeilPasquier, LaurentPenney, LynettePhilippe, ChristophePiccolo, GianlucaPoulton, CathrynPutoux, AudreyRio, MarlèneRougeot, ChristelleSalpietro, VincenzoScheffer, IngridSchneider, AmySrivastava, SiddharthStraussberg, RachelStriano, PasqualeValente, Enza MariaVenot, PerrineVillard, LaurentVitobello, AntonioWagner, JohannaWagner, MatiasZaki, Maha S.Zara, FederizoLesca, GaetanYassaee, Vahid RezaMiryounesi, MohammadHashemi-Gorji, FarzadBeiraghi, MehranAshrafzadeh, FarahGalehdari, HamidWalsh, ChristopherNovelli, AntonioTacke, MoritzSadykova, DinaraMaidyrov, YerdanKoneev, KairgaliShashkin, ChingizCapra, ValeriaZamani, MinaVan Maldergem, LionelBurglen, LydiePiard, Juliette
European Journal of Human Genetics. 31(9):1023-1031
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[검색어] Denommé-Pichon, A.-S.
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