학술논문


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발행년
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(예 : 2010-2015)
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'학술논문' 에서 검색결과 310건 | 목록 1~20
Academic Journal
María del Rocío Pérez BacaMaría Palomares-BraloMichiel VanhooydonckLisa HamerlinckEva D’haeneSebastian LeimbacherEva Z. JacobsLaurenz De CockErika D’haenensAnnelies DheedeneZoë MalfaitLies VantommeAnanilia SilvaKathleen RooneyXiaonan ZhaoAmir Hossein SaeidianNichole Marie OwenFernando Santos-SimarroRoser Lleuger-PujolSixto García-MiñaúrItsaso Losantos-GarcíaBjörn MentenGaia GestriNicola RaggeAbbey ScottAlejandro IglesiasAllyn McConkie-RosellAmy KritzerAna BotoAndi M. LewisAndreas TzschachAnnarita NicosiaAnne O’Donnell-LuriaAngela PeronAnn-Charlotte ThuressonAnneke Vulto-van-SilfhoutAntonio NovelliAstrid S. PlompBalram GangaramBelén Gil-FournierBoris KerenCasie GenettiChiara De LucaChristian P. SchaafClaire BeneteauDaniela GrazianiDaryl A. ScottDavid A. KoolenDavid GeneviéveDorine BaxElizabeth J. LeslieElizabeth MizerikElizabeth RoederEmily MagnessEsther NibbelingGaetan LescaGöran AnnerénGregory M. EnnsHilde Van EschHimanshu GoelInés QuintelaJan CobbenJennifer L. MorrisonJesus EirisJoan StolerJosephine GaoKatharina SteindlKatrina DippleKonstantinos KolokotronisLaurie H. SeaverLynda PollackMahdi MotazackerManuela GasparriMargje SinnemaMaria Cristina DigilioMarie T. McDonaldMarisol Ibarra RamírezMartine Doco-FenzyMarzena KucharczykMathilde NizonMegan BootheMelanie C. O'LearyMelissa T. CarterMeredith RossMeredith WilsonMerel KlaassensMonia GinevrinoMonica Hsiung WojcikNathaniel RobinNicolas ChatronOdile BoutePankaj AgrawalPaolo FontanaPaolo ZanoniPascal JosetPernille M. TorringPing Yee Billie AuServi StevensSoraya Ramiro LeónStephanie BaskinStephanie Parker DiTroiaSue-Faye SiowTanguy DemaretVasilica PlaiasuVirginia ClowesXi LuoYvonne Hilhorst-HofsteeBekim SadikovicElke BogaertKris VleminckxThomas NaertDelfien SyxBert CallewaertSarah Vergult
American Journal of Human Genetics, 112, 6, pp. 1388-1414
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
Book
Methods in Molecular Biology ISBN: 9781071647493
Academic Journal
Nicolas, GaëlZaréa, AlineLacour, MorganeQuenez, OlivierRousseau, StéphaneRichard, Anne-ClaireBonnevalle, AntoineSchramm, CatherineOlaso, RobertSandron, FlorianBoland, AnneDeleuze, Jean-FrançoisAndriuta, DanielaAnthony, PierreAuriacombe, SophieBalageas, Anna-ChloéBallan, GuillaumeBarbay, MélanieBéjot, YannickBelliard, SergeBenaiteau, MarieBennys, KarimBombois, StéphanieBoutoleau-Bretonnière, ClaireBranger, PierreCarlier, JasmineCartz-Piver, LeslieCassagnaud, PascalineCeccaldi, Mathieu-PierreChauviré, ValérieChen, YaohuaCogez, JulienCognat, EmmanuelContegal-Callier, FabienneCorneille, LéaCouratier, PhilippeCretin, BenjaminCrinquette, CharlotteDauriat, BenjaminDautricourt, Sophiede la Sayette, Vincentde Liège, AstridDeffond, DidierDemurger, FlorenceDeramecourt, VincentDerollez, CélineDionet, ElsaDoco Fenzy, MartineDumurgier, JulienDutray, AnaïsEtcharry-Bouyx, FrédériqueFormaglio, MaïtéGabelle, AudreyGainche-Salmon, AnneGodefroy, OlivierGraber, MathildeGregoire, ChloéGrimaldi, StephanGueniat, JulienGueriot, ClaudeGuillet-Pichon, VirginieHaffen, SophieHanta, Cezara-RoxanaHardy, ClémenceHautecloque, GeoffroyHeitz, CamilleHourregue, ClaireJonveaux, ThérèseJurici, SnejanaKoric, LejlaKrolak-Salmon, PierreLagarde, JulienLanoiselée, Hélène-MarieLaurens, BriceLe Ber, IsabelleLe Guyader, GwenaëlLeblanc, AmélieLebouvier, ThibaudLevy, RichardLippi, AnaïsMackowiak, Marie-AnneMagnin, EloiMarelli, CeciliaMartinaud, OlivierMaureille, AurelienMigliaccio, RaffaellaMilongo-Rigal, EmilieMohr, SophieMollion, HélèneMorin, AlexandreNivelle, JuliaNoiray, CamilleOlivieri, PaulinePaquet, ClairePariente, JérémiePasquier, FlorencePerron, AlexandrePhilippi, NathaliePlanche, VincentPouclet-Courtemanche, HélèneRafiq, MarieRollin-Sillaire, AdelineRoué-Jagot, CaroleSaracino, DarioSarazin, MarieSauvée, MathildeSellal, FrançoisTeichmann, MarcThauvin, ChristelThomas, QuentinTisserand, CamilleTurpinat, CédricVan Damme, LaurèneVercruysse, OlivierVillain, NicolasWagemann, NathalieCharbonnier, CamilleWallon, David
In Genetics in Medicine May 2024 26(5)
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
Academic Journal
Clin Genet
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Clinical genetics
Christensen, M B, Levy, A M, Mohammadi, N A, Niceta, M, Kaiyrzhanov, R, Dentici, M L, Al Alam, C, Alesi, V, Benoit, V, Bhatia, K P, Bierhals, T, Boßelmann, C M, Buratti, J, Callewaert, B, Ceulemans, B, Charles, P, De Wachter, M, Dehghani, M, D'haenens, E, Doco-Fenzy, M, Geßner, M, Gobert, C, Guliyeva, U, Haack, T B, Hammer, T B, Heinrich, T, Hempel, M, Herget, T, Hoffmann, U, Horvath, J, Houlden, H, Keren, B, Kresge, C, Kumps, C, Lederer, D, Lermine, A, Magrinelli, F, Maroofian, R, Vahidi Mehrjardi, M Y, Moudi, M, Müller, A J, Oostra, A J, Pletcher, B A, Ros-Pardo, D, Samarasekera, S, Tartaglia, M, Van Schil, K, Vogt, J, Wassmer, E, Winkelmann, J, Zaki, M S, Zech, M, Lerche, H, Radio, F C, Gomez-Puertas, P, Møller, R S & Tümer, Z 2022, ' Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder ', Clinical Genetics, vol. 102, no. 2, pp. 98-109 . https://doi.org/10.1111/cge.14165
Clin. Genet. 102, 98-109 (2022)
CLINICAL GENETICS
Academic Journal
Abbott, Kristin M.Banka, Siddharthde Boer, ElkeCiolfi, AndreaClayton-Smith, JillDallapiccola, BrunoDenommé-Pichon, Anne-SophieFaivre, LaurenceGilissen, ChristianHaack, Tobias B.Havlovicova, MarketaHoischen, AlexanderJackson, AdamKerstjens, MiekeKleefstra, TjitskeMartín, Estrella LópezMacek, Milan, Jr.Matalonga, LeslieMaystadt, IsabelleMorleo, ManuelaNigro, VicenzoPinelli, MichelePizzi, SimonePosada, ManuelRadio, Francesca C.Renieri, AlessandraRiess, OlafRooryck, CarolineRyba, LukasAgathe, Jean-Madeleine de SainteSanten, Gijs W.E.Schwarz, MartinTartaglia, MarcoThauvin, ChristelTorella, AnnalauraTrimouille, AurélienVerloes, AlainVissers, LisenkaVitobello, AntonioVotypka, PavelZguro, KristinaBoer, Elke deCohen, EnzoDanis, DanielGao, FeiHorvath, RitaJohari, MridulJohanson, LennartLi, ShuangMorsy, HebaNelson, IsabelleParamonov, Idate Paske, Iris B.A.W.Robinson, PeterSavarese, MarcoSteyaert, WouterTöpf, Anavan der Velde, Joeri K.Vandrovcova, JanaGraessner, HolmZurek, BirteEllwanger, KorneliaOssowski, StephanDemidov, GermanSturm, MarcSchulze-Hentrich, Julia M.Schüle, RebeccaXu, JishuKessler, ChristophWayand, MelanieSynofzik, MatthisWilke, CarloTraschütz, AndreasSchöls, LudgerHengel, HolgerLerche, HolgerKegele, JosuaHeutink, PeterBrunner, HanScheffer, HansHoogerbrugge, Nicoline‘t Hoen, Peter A.C.Vissers, Lisenka E.L.M.Sablauskas, Karolisde Voer, Richarda M.Kamsteeg, Erik-Janvan de Warrenburg, Bartvan Os, NienkePaske, Iris teJanssen, ErikSteehouwer, MarloesYaldiz, BurcuBrookes, Anthony J.Veal, ColinGibson, SpencerMaddi, VatsalyaMehtarizadeh, MehdiRiaz, UmarWarren, GregDizjikan, Farid YavariShorter, ThomasStraub, VolkerBettolo, Chiara MariniManera, Jordi DiazHambleton, SophieEngelhardt, KarinAlexander, ElizabethDuffourd, YannisBruel, Ange-LinePeyron, ChristinePélissier, AuroreBeltran, SergiGut, Ivo GlynneLaurie, StevenPiscia, DavidePapakonstantinou, AnastasiosBullich, GemmaCorvo, AlbertoFernandez-Callejo, MarcosHernández, CarlesPicó, DanielLochmüller, HannsGumus, GulcinBros-Facer, VirginieRath, AnaHanauer, MarcLagorce, DavidHongnat, OscarChahdil, MarouaLebreton, EmelineStevanin, GiovanniDurr, AlexandraDavoine, Claire-SophieGuillot-Noel, LénaHeinzmann, AnnaCoarelli, GiuliaBonne, GisèleEvangelista, TeresinhaAllamand, ValérieBen Yaou, RabahMetay, CorinneEymard, BrunoAtalaia, AntonioStojkovic, TanyaTurnovec, MarekThomasová, DanaKremliková, Radka PourováFranková, VeraHavlovicová, MarkétaLišková, PetraDoležalová, PavlaParkinson, HelenKeane, ThomasFreeberg, MalloryThomas, ColineSpalding, DylanRobert, GlennCosta, AlessiaPatch, ChristineHanna, MikeHoulden, HenryReilly, MaryEfthymiou, StephanieCali, ElisaMagrinelli, FrancescaSisodiya, Sanjay M.Rohrer, JonathanMuntoni, FrancescoZaharieva, IrinaSarkozy, AnnaTimmerman, VincentBaets, Jonathande Vries, GeertDe Winter, JonathanBeijer, Daniquede Jonghe, PeterVan de Vondel, LiedeweiDe Ridder, WillemWeckhuysen, SarahNigro, VincenzoMutarelli, MargheritaVaravallo, AlessandraBanfi, SandroMusacchia, FrancescoPiluso, GiulioFerlini, AlessandraSelvatici, RitaGualandi, FrancescaBigoni, StefaniaRossi, RacheleNeri, MarcellaAretz, StefanSpier, IsabelSommer, Anna KatharinaPeters, SophiaOliveira, CarlaPelaez, Jose GarciaMatos, Ana RitaJosé, Celina SãoFerreira, MartaGullo, IreneFernandes, SusanaGarrido, LuziaFerreira, PedroCarneiro, FátimaSwertz, Morris A.Johansson, Lennartvan der Vries, GerbenNeerincx, Pieter B.Ruvolo, DavidKerstjens Frederikse, Wilhemina S.Zonneveld-Huijssoon, EvelineRoelofs-Prins, Dieuwkevan Gijn, MarielleKöhler, SebastianMetcalfe, AlisonDrunat, SéverineHeron, DelphineMignot, CyrilKeren, BorisLacombe, DidierTrimouille, AurelienCapella, GabrielValle, LauraHolinski-Feder, ElkeLaner, AndreasSteinke-Lange, VerenaCilio, Maria-RobertaCarpancea, EvelinaDepondt, ChantalLederer, DamienSznajer, YvesDuerinckx, SarahMary, SandrineMacaya, AlfonsCazurro-Gutiérrez, AnaPérez-Dueñas, BelénMunell, FrancinaJarava, Clara FrancoMasó, Laura BatlleMarcé-Grau, AnnaColobran, RogerHackman, PeterUdd, BjarneHemelsoet, DimitriDermaut, BartSchuermans, NikaPoppe, BruceVerdin, HannahOsorio, Andrés NascimentoDepienne, ChristelRoos, AndreasCordts, IsabellDeschauer, MarcusStriano, PasqualeZara, FedericoRiva, AntonellaIacomino, MicheleUva, PaoloScala, MarcelloScudieri, PaoloBaşak, Ayşe NazlıClaeys, KristlBoztug, KaanHaimel, MatthiasW.E, GijsRuivenkamp, Claudia A.L.Natera de Benito, DanielThompson, RachelPolavarapu, KiranGrimbacher, BodoZaganas, IoannisKokosali, EvgeniaLambros, MathioudakisEvangeliou, AthanasiosSpilioti, MarthaKapaki, ElisabethBourbouli, MaraRadio, Francesca ClementinaBalicza, PeterMolnar, Maria JuditDe la Paz, Manuel PosadaSánchez, Eva BermejoDelgado, Beatriz MartínezAlonso García de la Rosa, F. 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In Genetics in Medicine April 2023 25(4)
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