학술논문


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'학술논문' 에서 검색결과 116건 | 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
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. JavierSchröck, EvelinRump, AndreasMei, DavideVetro, AnnalisaBalestrini, SimonaGuerrini, RenzoChinnery, Patrick F.Ratnaike, ThilokaSchon, KatherineMaver, AlesPeterlin, BorutMünchau, AlexanderLohmann, KatjaHerzog, RebeccaPauly, MartjeMay, PatrickBeeson, DavidCossins, JudithFurini, SimoneFallerini, ChiaraBenetti, ElisaAfenjar, AlexandraGoldenberg, AliceMasurel, AlicePhan, AliceDieux-Coeslier, AnneFargeot, AnneGuerrot, Anne-MarieToutain, AnnickMolin, ArnaudSorlin, ArthurPutoux, AudreyJouret, BéatriceLaudier, BéatriceDemeer, BénédicteDoray, BéréniceBonniaud, BertilleIsidor, BertrandGilbert-Dussardier, BrigitteLeheup, BrunoReversade, BrunoPaul, CarleVincent-Delorme, CatherineNeiva, CeciliaPoirsier, CélineQuélin, ChloéChiaverini, ChristineCoubes, ChristineFrancannet, ChristineColson, CindyDesplantes, ClaireWells, ConstanceGoizet, CyrilSanlaville, DamienAmram, DanielLehalle, DaphnéGeneviève, DavidGaillard, DominiqueZivi, EinatSarrazin, ElisabethSteichen, ElisabethSchaefer, ÉliseLacaze, ElodieJacquemin, EmmanuelBongers, ErnieKilic, EsraColin, EstelleGiuliano, FabiennePrieur, FabienneLaffargue, FannyMorice-Picard, FannyPetit, FlorenceCartault, FrançoisFeillet, FrançoisBaujat, GenevièveMorin, GillesDiene, GwenaëlleJournel, HubertPerthus, IsabelleLespinasse, JamesAlessandri, Jean-LucAmiel, JeanneMartinovic, JelenaDelanne, JulianAlbuisson, JulietteLambert, LaëtitiaPerrin, LaurenceOusager, Lilian BommeVan Maldergem, LionelPinson, LucileRuaud, LyseSamimi, MahtabBournez, MarieBonnet-Dupeyron, Marie NoëlleVincent, MarieJacquemont, Marie-LineCordier-Alex, Marie-PierreGérard-Blanluet, MarionWillems, MarjolaineSpodenkiewicz, MartaDoco-Fenzy, MartineRossi, MassimilianoRenaud, MathildeFradin, MélanieMathieu, MichèleHolder-Espinasse, Muriel H.Houcinat, NadaHanna, NadineLeperrier, NathalieChassaing, NicolasPhilip, NicoleBoute, OdileVan Kien, Philippe KhauParent, PhilippeBitoun, PierreSarda, PierreVabres, PierreJouk, Pierre-SimonTouraine, RenaudEl Chehadeh, SalimaWhalen, SandraMarlin, SandrinePassemard, SandrineGrotto, SarahBellanger, Séverine AudebertBlesson, SophieNambot, SophieNaudion, SophieLyonnet, StanislasOdent, SylvieAttie-Bitach, TaniaBusa, TiffanyDrouin-Garraud, ValérieLayet, ValérieBizaoui, VaroonaCusin, VéronicaCapri, YlineAlembik, YvesJean-Marçais, NolwennLópez-Martín, EstrellaMacek, MilanMencarelli, Maria AntoniettaMoutton, SébastienPfundt, RolphSafraou, HanaThauvin-Robinet, ChristelThevenon, JulienTran Mau-Them, Frédéricde Vries, Bert B.A.Willemsen, Marjolein H.Philippe, Christophe
In Genetics in Medicine April 2023 25(4)
Academic Journal
Eur J Hum Genet
Drivas, T G, Li, D, Nair, D, Alaimo, J T, Alders, M, Altmüller, J, Barakat, T S, Bebin, E M, Bertsch, N L, Blackburn, P R, Blesson, A, Bouman, A M, Brockmann, K, Brunelle, P, Burmeister, M, Cooper, G M, Denecke, J, Dieux-Coëslier, A, Dubbs, H, Ferrer, A, Gal, D, Bartik, L E, Gunderson, L B, Hasadsri, L, Jain, M, Karimov, C, Keena, B, Klee, E W, Kloth, K, Lace, B, Macchiaiolo, M, Marcadier, J L, Milunsky, J M, Napier, M P, Ortiz-Gonzalez, X R, Pichurin, P N, Pinner, J, Powis, Z, Prasad, C, Radio, F C, Rasmussen, K J, Renaud, D L, Rush, E T, Saunders, C, Selcen, D, Seman, A R, Shinde, D N, Smith, E D, Smol, T, Snijders Blok, L, Stoler, J M, Tang, S, Tartaglia, M, Thompson, M L, van de Kamp, J M, Wang, J, Weise, D, Weiss, K, Woitschach, R, Wollnik, B, Yan, H, Zackai, E H, Zampino, G, Campeau, P & Bhoj, E 2020, 'A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome', European Journal of Human Genetics, vol. 28, no. 10, pp. 1422-1431. https://doi.org/10.1038/s41431-020-0654-4
Paediatrics Publications
Academic Journal
Castilla-Vallmanya, LauraSelmer, Kaja K.Dimartino, ClémantineRabionet, RaquelBlanco-Sánchez, BernardoYang, SandraReijnders, Margot R.F.van Essen, Antonie J.Oufadem, MyriamVigeland, Magnus D.Stadheim, BarbroHouge, GunnarCox, HelenKingston, HelenClayton-Smith, JillInnis, Jeffrey W.Iascone, MariaCereda, AnnaGabbiadini, SaraChung, Wendy K.Sanders, VictoriaCharrow, JoelBryant, EmilyMillichap, JohnVitobello, AntonioThauvin, ChristelMau-Them, Frederic TranFaivre, LaurenceLesca, GaetanLabalme, AudreyRougeot, ChristelleChatron, NicolasSanlaville, DamienChristensen, Katherine M.Kirby, AmeliaLewandowski, RaymondGannaway, RachelAly, MahaLehman, AnnaClarke, LorneGraul-Neumann, LuitgardZweier, ChristianeLessel, DavorLozic, BernardaAukrust, IngvildPeretz, RyanStratton, RobertSmol, ThomasDieux-Coëslier, AnneMeira, JoannaWohler, ElizabethSobreira, NaraBeaver, Erin M.Heeley, JenniferBriere, Lauren C.High, Frances A.Sweetser, David A.Walker, Melissa A.Keegan, Catherine E.Jayakar, ParulShinawi, MarwanKerstjens-Frederikse, Wilhelmina S.Earl, Dawn L.Siu, Victoria M.Reesor, EmmaYao, TonyHegele, Robert A.Vaske, Olena M.Rego, ShannonShapiro, Kevin A.Wong, BrianGambello, Michael J.McDonald, MarieKarlowicz, DanielleColombo, RobertoSerretti, AlessandroPais, LynnO’Donnell-Luria, AnneWray, AlisonSadedin, SimonChong, BelindaTan, Tiong Y.Christodoulou, JohnWhite, Susan M.Slavotinek, AnneBarbouth, DeborahMorel Swols, DaynaParisot, MélanieBole-Feysot, ChristineNitschké, PatrickPingault, VéroniqueMunnich, ArnoldCho, Megan T.Cormier-Daire, ValérieBalcells, SusannaLyonnet, StanislasGrinberg, DanielAmiel, JeanneUrreizti, RoserGordon, Christopher T.
In Genetics in Medicine July 2020 22(7):1215-1226
Academic Journal
Thomas HussonFrançois LecoquierreGaël NicolasAnne-Claire RichardAlexandra AfenjarSéverine AUDEBERT-BELLANGERCatherine BadensFrédéric BilanVaroona BizaouiAnne BolandMarie-Noelle Bonnet-DupeyronElise Brischoux-BoucherCéline BonnetMarie BournezOdile BoutePerrine BrunelleRoseline CaumesPerrine CharlesNicolas ChassaingNicolas ChatronBenjamin CognéEstelle ColinValérie Cormier-DaireRodolphe DardBenjamin DauriatJulian DelanneJean-François DeleuzeFlorence DemurgerAnne-Sophie Denommé-PichonChristel DepienneAnne Dieux CoeslierChristèle DubourgPatrick Ederysalima EL CHEHADEHLaurence FaivreMélanie FRADINAurore GardeDavid GenevièveBrigitte Gilbert-DussardierCyril GoizetAlice GoldenbergEvan GouyAnne-Marie GuerrotAnne GuimierInes HARZALLAHDelphine HéronBertrand IsidorXavier Le Guillou HornBoris KerenAlma KuechlerElodie LacazeAlinoë LavillaureixDaphné LehalleGaetan LescaJames LespinasseJonathan LevyStanislas LyonnetGodelieve MorelNolwenn Jean MarçaisSandrine MarlinLuisa MarsiliCyril MignotSophie NambotMathilde NizonRobert OlasoLaurent PASQUIERLaurine PerrinFlorence PetitAmélie PitonFabienne PrieurAudrey PutouxMarc PlanesSylvie OdentChloé QuelinSylvia QuemenerMélanie RamaMarlène RIOMassimiliano RossiElise SchaeferSophie RondeauPascale SAUGIER-VEBERThomas SmolSabine SigaudyRenaud TOURAINEFrédéric Tran-Mau-ThemAurélien TrimouilleClémence VanlerbergheValérie VantalonGabriella VeraMarie VincentAlban ZieglerOlivier GuillinDominique CampionCamille Charbonnier
Academic Journal
Am J Med Genet B Neuropsychiatr Genet
Wolfe, K, McQuillin, A, Alesi, V, Boudry Labis, E, Cutajar, P, Dallapiccola, B, Dentici, M L, Dieux-Coeslier, A, Duban-Bedu, B, Duelund Hjortshøj, T, Goel, H, Loddo, S, Morrogh, D, Mosca-Boidron, A-L, Novelli, A, Olivier-Faivre, L, Parker, J, Parker, M J, Patch, C, Pelling, A L, Smol, T, Tümer, Z, Vanakker, O, van Haeringen, A, Vanlerberghe, C, Strydom, A, Skuse, D & Bass, N 2018, ' Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications ', American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, vol. 177, no. 4, pp. 397-405 . https://doi.org/10.1002/ajmg.b.32627
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
Academic Journal
Proc Natl Acad Sci U S A
Proceedings of the National Academy of Sciences of the United States of America 119 (2022). doi:10.1073/pnas.2116887119
info:cnr-pdr/source/autori:Nappi Mario, Barrese Vincenzo, Carotenuto Lidia, Lesca Gaetan, Labalme Audrey, Ville Dorothee, Smol Thomas, Rama Melanie, Dieux-Coeslier Anne, Rivier-Ringenbach Clotilde, Soldovieri Maria Virginia, Ambrosino Paolo, Mosca Ilaria, Pusch Michael, Miceli Francesco and Taglialatela Maurizio/titolo:Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy/doi:10.1073%2Fpnas.2116887119/rivista:Proceedings of the National Academy of Sciences of the United States of America/anno:2022/pagina_da:/pagina_a:/intervallo_pagine:/volume:119
Academic Journal
Hoornaert, K P, Vereecke, I, Dewinter, C, Rosenberg, T, Beemer, F A, Leroy, J G, Bendix, L, Bjorck, E, Bonduelle, M, Boute, O, Cormier-Daire, V, De Die-Smulders, C, Dollfus, H, Elting, M, Green, A, Guerci, V I, Hennekam, R C M, Hilhorts-Hofstee, Y, Holder, M, Hoyng, C, Jones, K J, Josifova, D, Kaitila, I, Kjaergaard, S, Kroes, Y H, Lagerstedt, K, Lees, M, LeMerrer, M, Magnani, C, Marcelis, C, Martorell, L, Mathieu, M, McEntagart, M, Mendicino, A, Morton, J, Orazio, G, Paquis, V, Reish, O, Simola, K O J, Smithson, S F, Temple, K I, Van Aken, E, van Bever, Y, van der Ende, J, van Hagen, J M, Zelante, L, Zordania, R, De Paepe, A, Leroy, B P, de Buyzere, M, Coucke, P J & Mortier, G R 2010, 'Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients', European Journal of Human Genetics, vol. 18, no. 8, pp. 872-880. https://doi.org/10.1038/ejhg.2010.23
European Journal of Human Genetics, 18, 8, pp. 872-80
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[검색어] Dieux-Coeslier, Anne
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