학술논문


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발행년
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(예 : 2010-2015)
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공정이용 지침
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위반 시 제재
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'학술논문' 에서 검색결과 405건 | 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
Caroline NavaBenjamin CogneAmandine SantiniElsa LeitãoFrançois LecoquierreYuyang ChenSarah L. StentonThomas BesnardSolveig HeideSarah BaerAbhilasha JakharSonja NeuserBoris KerenAnne FaudetSylvie ForlaniMarie FaoucherKevin UguenKonrad PlatzerAlexandra AfenjarJean-Luc AlessandriStephanie AndresChloé AngeliniBernard AralBenoit ArveilerTania Attie-BitachMarion Aubert MuccaGuillaume BanneauTahsin Stefan BarakatGiulia BarciaStéphanie BaulacClaire BeneteauFouzia BenkerdouVirginie BernardStéphane BézieauDominique BonneauMarie-Noelle Bonnet-DupeyronSimon BoussionOdile BouteElise Brischoux-BoucherSamantha J. BryenJulien BurattiTiffany BusaAlmuth CaliebeYline CapriKévin CassinariRoseline CaumesCamille CenniPascal ChambonPerrine CharlesJohn ChristodoulouCindy ColsonSolène ConradAuriane CospainJuliette CoursimaultThomas CourtinMadeline CouseCharles CouttonIsabelle CreveauxAlissa M. D’GamaBenjamin DauriatJean-Madeleine de Sainte AgatheGiulia Del GobboAndrée Delahaye-DuriezJulian DelanneAnne-Sophie Denommé-PichonAnne Dieux-CoeslierLaura Do Souto FerreiraMartine Doco-FenzyStephan DrukewitzVéronique DubocChristèle DubourgYannis DuffourdDavid DymentSalima El ChehadehMonique ElmalehLaurence FaivreSamuel FennellyHanna FischerMélanie FradinCamille Galludec VaillantBenjamin GanneJamal GhoumidHimanshu GoelZeynep Gokce-SamarAlice GoldenbergRomain Gonfreville RobertSvetlana GorokhovaLouise GoujonVictoria GranierMathilde GrasJohn M. GreallyBianca GreitenPaul GueguenAnne-Marie GuerrotSaurav GuhaAnne GuimierTobias B. HaackHamza Hadj AbdallahYosra HallebRadu HarbuzMadeleine HarrisJulia HentschelBénédicte HéronMarc-Phillip HitzA. Micheil InnesVincent JadasLouis JanuelNolwenn Jean-MarçaisVaidehi JobanputraFlorence JobicLudmila JorneaCéline JostSophie JuliaFrank J. KaiserDaniel KaschtaSabine KayaPetra KettelerBochra KhadijaFabian KilpertCordula KnoppFlorian KraftIlona KreyMarilyn LackmyFanny LaffargueLaetitia LambertRyan LamontVincent LaugelSteven LaurieJulie L. LauzonLouis LebretonMarine LebrunMarine LegendreEric LeguernDaphné LehalleElodie LejeuneGaetan LescaMarion Lesieur-SebellinJonathan LevyAgnès LinglartStanislas LyonnetKevin LüthyAlan S. MaCorinne MachJean-Louis MandelLamisse Mansour-HendiliJulien MarcadierVictor MarinHenri MargotValentine MarquetAngèle MayJohannes A. MayrCatherine MeriddaVincent MichaudCaroline MichotGwenael NadeauSophie NaudionLaetitia NguyenMathilde NizonFrédérique NowakSylvie OdentValerie OlinIkeoluwa A. Osei-OwusuMatthew OsmondKatrin ÕunapLaurent PasquierSandrine PassemardMelissa PaulyOlivier PatatMarine PensecLaurence Perrin-SabourinFlorence PetitChristophe PhilippeMarc PlanesAnnapurna PoduriCéline PoirsierAntoine PouzetBradley PrinceClément ProuteauAurora PujolCaroline RacineMélanie RamaFrancis RamondKara RanguinMargaux RawayAndré ReisMathilde RenaudNicole RevencuAnne-Claire RichardLucile Riera-NavarroRocio RiusDiana RodriguezAgustí Rodriguez-PalmeroSophie RondeauAnnika Roser-UnruhChristelle Rougeot JungHana SafraouVéronique SatrePascale Saugier-VeberClément SauvestreElise SchaeferWanqing ShaoIna SchanzeJan-Ulrich SchlumpAgatha Schlüter MartinCaroline Schluth-BolardSarah SchuhmannChristopher SchröderMonisha SebastinSabine SigaudyMalte SpielmannMarta SpodenkiewiczLaura St ClairJulie SteffannRadka StoevaHarald SurowyMark A. TarnopolskyCalina TodosiAnnick ToutainFrédéric Tran Mau-ThemAstrid UnterlauftJulien Van-GilsClémence VanlerbergheGeorgia VasileiouGabriella VeraAndré VerdelAlain VerloesYoann VialCédric VignalMarie VincentCatherine Vincent-DelormeAline Vincent-DevulderAntonio VitobelloSacha WeberMarjolaine WillemsKhaoula Zaafrane-KhachnaouiPia ZacherLena ZeltnerAlban ZieglerWojciech P. GalejHélène DollfusChristel ThauvinKym M. BoycottPierre MarijonAlban LermineValérie MalanMarlène RioAlma KuechlerBertrand IsidorSéverine DrunatThomas SmolNicolas ChatronAmélie PitonGael NicolasMatias WagnerRami Abou JamraDelphine HéronCyril MignotPierre BlancAnne O’Donnell-LuriaNicola WhiffinCamille CharbonnierClément CharentonJulien ThevenonChristel Depienne
Nat Genet
Nature 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. 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
Martin-Brevet, SandraRodríguez-Herreros, BorjaNielsen, Jared A.Moreau, ClaraModenato, ClaudiaMaillard, Anne M.Pain, AurélieRichetin, SoniaJønch, Aia E.Qureshi, Abid Y.Zürcher, Nicole R.Conus, PhilippeChung, Wendy K.Sherr, Elliott H.Spiro, John E.Kherif, FerathBeckmann, Jacques S.Hadjikhani, NouchineReymond, AlexandreBuckner, Randy L.Draganski, BogdanJacquemont, SébastienAddor, Marie-ClaudeAndrieux, JorisArveiler, BenoîtBaujat, GenevièveSloan-Béna, FrédériqueBelfiore, MarcoBonneau, DominiqueBouquillon, SoniaBoute, OdileBrusco, AlfredoBusa, TiffanyCaberg, Jean-HubertCampion, DominiqueColombert, VanessaCordier, Marie-PierreDavid, AlbertDebray, François-GuillaumeDelrue, Marie-AngeDoco-Fenzy, MartineDunkhase-Heinl, UlrikeEdery, PatrickFagerberg, ChristinaFaivre, LaurenceForzano, FrancescaGenevieve, DavidGérard, MarionGiachino, DanielaGuichet, AgnèsGuillin, OlivierHéron, DelphineIsidor, BertrandJacquette, AuréliaJaillard, SylvieJournel, HubertKeren, BorisLacombe, DidierLebon, SébastienLe Caignec, CédricLemaître, Marie-PierreLespinasse, JamesMathieu-Dramart, MichèleMercier, SandraMignot, CyrilMissirian, ChantalPetit, FlorencePilekær Sørensen, KristinaPinson, LucilePlessis, GhislainePrieur, FabienneRooryck-Thambo, CarolineRossi, MassimilianoSanlaville, DamienSchlott Kristiansen, BrittaSchluth-Bolard, CarolineTill, MarianneVan Haelst, MiekeVan Maldergem, LionelAlupay, Hanalore, BS; Aaronson, Benjamin, BS; Ackerman, Sean, MD; Ankenman, Katy, MSW; Anwar, Ayesha, BA; Atwell, Constance, PhD; Bowe, Alexandra, BA; Beaudet, Arthur L., MD; Benedetti, Marta, PhD; Berg, Jessica, MS; Berman, Jeffrey, PhD; Berry, Leandra N., PhD; Bibb, Audrey L., MS; Blaskey, Lisa, PhD; Brennan, Jonathan, PhD; Brewton, Christie M., BS; Buckner, Randy, PhD; Bukshpun, Polina, BA; Burko, Jordan, BA; Cali, Phil, EdS; Cerban, Bettina, BA; Chang, Yishin, MS; Cheong, Maxwell, BE, MS; Chow, Vivian, BA; Chu, Zili, PhD; Chudnovskaya, Darina, BS; Cornew, Lauren, PhD; Dale, Corby, PhD; Dell, John, BS; Dempsey, Allison G., PhD; Deschamps, Trent, BS; Earl, Rachel, BA; Edgar, James, PhD; Elgin, Jenna, BS; Olson, Jennifer Endre, PsyD; Evans, Yolanda L., MA; Findlay, Anne, MA; Fischbach, Gerald D., MD; Fisk, Charlie, BS; Fregeau, Brieana, BA; Gaetz, Bill, PhD; Gaetz, Leah, MSW, BSW, BA; Garza, Silvia, BA; Gerdts, Jennifer, PhD; Glenn, Orit, MD; Gobuty, Sarah E., MS, CGC; Golembski, Rachel, BS; Greenup, Marion, MPH, MEd; Heiken, Kory, BA; Hines, Katherine, BA; Hinkley, Leighton, PhD; Jackson, Frank I., BS; Jenkins, Julian, III, PhD; Jeremy, Rita J., PhD; Johnson, Kelly, PhD; Kanne, Stephen M., PhD; Kessler, Sudha, MD; Khan, Sarah Y., BA; Ku, Matthew, BS; Kuschner, Emily, PhD; Laakman, Anna L., MEd; Lam, Peter, BS; Lasala, Morgan W., BA; Lee, Hana, MPH; LaGuerre, Kevin, MS; Levy, Susan, MD; Cavanagh, Alyss Lian, MA; Llorens, Ashlie V., BS; Campe, Katherine Loftus, MEd; Luks, Tracy L., PhD; Marco, Elysa J., MD; Martin, Stephen, BS; Martin, Alastair J., PhD; Marzano, Gabriela, HS; Masson, Christina, BFA; McGovern, Kathleen E., BS; McNally Keehn, Rebecca, PhD; Miller, David T., MD, PhD; Miller, Fiona K., PhD; Moss, Timothy J., MD, PhD; Murray, Rebecca, BA; Nagarajan, Srikantan S., PhD; Nowell, Kerri P., MA; Owen, Julia, PhD; Paal, Andrea M., MS; Packer, Alan, PhD; Page, Patricia Z., MS; Paul, Brianna M., PhD; Peters, Alana, BS; Peterson, Danica, MPH; Poduri, Annapurna, PhD; Pojman, Nicholas J., BS; Porche, Ken, MS; Proud, Monica B., MD; Qasmieh, Saba, BA; Ramocki, Melissa B., MD, PhD; Reilly, Beau, PhD; Roberts, Timothy P.L., PhD; Shaw, Dennis, MD; Sinha, Tuhin, PhD; Smith-Packard, Bethanny, MS, CGC; Gallagher, Anne Snow, PhD; Swarnakar, Vivek, PhD; Thieu, Tony, BA, MS; Triantafallou, Christina, PhD; Vaughan, Roger, PhD; Wakahiro, Mari, MSW; Wallace, Arianne, PhD; Ward, Tracey, BS; Wenegrat, Julia, MA; Wolken, Anne, BS
Biological Psychiatry. 84(4):253-264
Academic Journal
NeuroImage. 203
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
Salian, S, Scala, M, Nguyen, T T M, Severino, M, Accogli, A, Amadori, E, Torella, A, Pinelli, M, Hudson, B, Boothe, M, Hurst, A, Ben-Omran, T, Larsen, M J, Fagerberg, C R, Sperling, L, Miceikaite, I, Herissant, L, Doco-Fenzy, M, Jennesson, M, Nigro, V, Striano, P, Minetti, C, Sachdev, R K, Palmer, E E, Capra, V & Campeau, P M 2021, ' Epileptic encephalopathy caused by ARV1 deficiency : refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins ', Clinical Genetics, vol. 100, no. 5, pp. 607-614 . https://doi.org/10.1111/cge.14033
Academic Journal
Modenato, C.Kumar, K.Moreau, C.Martin-Brevet, S.Huguet, G.Schramm, C.Jean-Louis, M.Martin, C.-O.Younis, N.Tamer, P.Douard, E.Thébault-Dagher, F.Côté, V.Charlebois, A.-R.Deguire, F.Maillard, A.M.Rodriguez-Herreros, B.Pain, A.Richetin, S.Addor, M.-C.Andrieux, J.Arveiler, B.Baujat, G.Sloan-Béna, F.Belfiore, M.Bonneau, D.Bouquillon, S.Boute, O.Brusco, A.Busa, T.CABERG, Jean-HubertCampion, D.Colombert, V.Cordier, M.-P.David, A.Debray, François-GuillaumeDelrue, M.-A.Doco-Fenzy, M.Dunkhase-Heinl, U.Edery, P.Fagerberg, C.Faivre, L.Forzano, F.Genevieve, D.Gérard, M.Giachino, D.Guichet, A.Guillin, O.Héron, D.Isidor, B.Jacquette, A.Jaillard, S.Journel, H.Keren, B.Lacombe, D.Lebon, S.Le Caignec, C.Lemaître, M.-P.Lespinasse, J.Mathieu-Dramart, M.Mercier, S.Mignot, C.Missirian, C.Petit, F.Pilekær Sørensen, K.Pinson, L.Plessis, G.Prieur, F.Raymond, A.Rooryck-Thambo, C.Rossi, M.Sanlaville, D.Schlott Kristiansen, B.Schluth-Bolard, C.Till, M.Van Haelst, M.Van Maldergem, L.Alupay, H.Aaronson, B.Ackerman, S.Ankenman, K.Anwar, A.Atwell, C.Bowe, A.Beaudet, A.L.Benedetti, M.Berg, J.Berman, J.Berry, L.N.Bibb, A.L.Blaskey, L.Brennan, J.Brewton, C.M.Buckner, R.Bukshpun, P.Burko, J.Cali, P.Cerban, B.Chang, Y.Cheong, M.Chow, V.Chu, Z.Chudnovskaya, D.Cornew, L.Dale, C.Dell, J.Dempsey, A.G.Deschamps, T.Earl, R.Edgar, J.Elgin, J.Olson, J.E.Evans, Y.L.Findlay, A.Fischbach, G.D.Fisk, C.Fregeau, B.Gaetz, B.Gaetz, L.Garza, S.Gerdts, J.Glenn, O.Gobuty, S.E.Golembski, R.Greenup, M.Heiken, K.Hines, K.Hinkley, L.Jackson, F.I.Jenkins, J.Jeremy, R.J.Johnson, K.Kanne, S.M.Kessler, S.Khan, S.Y.Ku, M.Kuschner, E.Laakman, A.L.Lam, P.Lasala, M.W.Lee, H.LaGuerre, K.Levy, S.Cavanagh, A.L.Llorens, A.V.Campe, K.L.Luks, T.L.Marco, E.J.Martin, S.Martin, A.J.Marzano, G.Masson, C.McGovern, K.E.Keehn, R.M.N.Miller, D.T.Miller, F.K.Moss, T.J.Murray, R.Nagarajan, S.S.Nowell, K.P.Owen, J.Paal, A.M.Packer, A.Page, P.Z.Paul, B.M.Peters, A.Peterson, D.Poduri, A.Pojman, N.J.Porche, K.Proud, M.B.Qasmieh, S.Ramocki, M.B.Reilly, B.Roberts, T.P.L.Shaw, D.Sinha, T.Smith-Packard, B.Gallagher, A.S.Swarnakar, V.Thieu, T.Triantafallou, C.Vaughan, R.Wakahiro, M.Wallace, A.Ward, T.Wenegrat, J.Wolken, A.Melie-Garcia, L.Kushan, L.Silva, A.I.van den Bree, M.B.M.Linden, D.E.J.Owen, M.J.Hall, J.Lippé, S.Chakravarty, M.Bzdok, D.Montreal Neurological Institute, McGill UniversityBearden, C.E.Draganski, B.Jacquemont, S.16p11.2 European ConsortiumSimons Searchlight Consortium
Transl Psychiatry
Translational Psychiatry, Vol 11, Iss 1, Pp 1-10 (2021)
16p11.2 European Consortium & Simons Searchlight Consortium 2021, 'Effects of eight neuropsychiatric copy number variants on human brain structure', Translational Psychiatry, vol. 11, no. 1, 399. https://doi.org/10.1038/s41398-021-01490-9
Translational Psychiatry
Translational psychiatry, vol. 11, no. 1, pp. 399
Modenato, C, Kumar, K, Moreau, C, Martin-Brevet, S, Huguet, G, Schramm, C, Jean-Louis, M, Martin, C O, Younis, N, Tamer, P, Douard, E, Thébault-Dagher, F, Côté, V, Charlebois, A R, Deguire, F, Maillard, A M, Rodriguez-Herreros, B, Pain, A, Richetin, S, 16p11.2 European Consortium, Simons Searchlight Consortium, Melie-Garcia, L, Kushan, L, Silva, A I, van den Bree, M B M, Linden, D E J, Owen, M J, Hall, J, Lippé, S, Chakravarty, M, Bzdok, D, Bearden, C E, Draganski, B, Jacquemont, S, Dunkhase-Heinl, U, Fagerberg, C, Pilekær Sørensen, K & Schlott Kristiansen, B 2021, ' Effects of eight neuropsychiatric copy number variants on human brain structure ', Translational Psychiatry, vol. 11, no. 1, 399 . https://doi.org/10.1038/s41398-021-01490-9
Translational Psychiatry, vol 11, iss 1
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