학술논문


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'학술논문' 에서 검색결과 43건 | 목록 1~20
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
Bayat, A, Borroto, M C, Salian, S, Zaki, M S, Benkerroum, H, Elbendary, H M, Nguyen, T T M, Sadek, A A, Carli, D, Brusco, A, Ferrero, G B, Tartaglia, M, Hay, E, Krey, I, A Jamra, R, Bartolomaeus, T, Knaus, A, Gleeson, J G, Houlden, H, Dominik, N, Jackson, A, Douzgou Houge, S, Banka, S, Mohammadi-Asl, J, Hajjari, M, Azizimalamiri, R, Nourbakhsh, P, Neissi, M, Scardamaglia, A, Li, D, Kinoshita, T, Maroofian, R, Murakami, Y & Campeau, P M 2025, 'PIGC-related encephalopathy : Lessons learned from 18 new probands', European journal of human genetics : EJHG. https://doi.org/10.1038/s41431-025-01923-9
Academic Journal
Dana E. Layo-CarrisEmily E. LubinAnnabel K. SangreeKelly J. ClarkEmily L. DurhamElizabeth M. GonzalezSarina SmithRajesh AngireddyXiao Min WangErin WeissAnnick ToutainRoberto Mendoza-LondonoLucie DupuisNadirah DamsehDanita VelascoIrene ValenzuelaMarta Codina-SolàCatherine ZiatsJaclyn HaveKatie ClarksonDora SteelManju KurianKaty BarwickDiana CarrascoAditi I. DagliM. J. M. NowaczykMiroslava HančárováŠárka BendováDarina PrchalovaZdeněk SedláčekAlica BaxováCatherine Bearce NowakJessica DouglasWendy K. ChungNicola LongoKonrad PlatzerChiara KlöcknerLuisa AverdunkDagmar WieczorekIlona KreyChristiane ZweierAndre ReisTugce BalciMarleen SimonHester Y. KroesAntje WiesenerGeorgia VasileiouNikolaos M. MarinakisDanai VeltraChristalena SofocleousKonstantina KosmaJoanne Traeger SynodinosKonstantinos A. VoudrisMarie-Laure VuillaumePaul GueguenNicolas DeriveEstelle ColinClarisse BattaultBillie AuMartin DelatyckiMathew WallisLyndon GallacherFatma MajdoubNoor SmalSarah WeckhuysenAn-Sofie SchoonjansR. Frank KooyMarije MeuwissenBenjamin T. CocanougherKathryn TaylorCarolyn E. PizoliMarie T. McDonaldPhilip JamesElizabeth R. RoederRebecca LittlejohnNicholas A. BorjaWilla ThorsonKristine KingRadka StoevaManon SuerinkEsther NibbelingStephanie BaskinGwenaël L. E. GuyaderJulie KaplanCandace MussDeanna Alexis CarereElizabeth J. K. BhojLaura M. Bryant
Eur J Hum Genet
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
European journal of human genetics
Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; ... (2024). Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), pp. 928-937. Springer Nature 10.1038/s41431-024-01610-1
Academic Journal
Berardo RinaldiAllan BayatLinda G ZachariassenJia-Hui SunYu-Han GeDan ZhaoKristine BondeLaura H MadsenIlham Abdimunim Ali AwadDuygu BagiranAmal SbeihSyeda Maidah ShahShaymaa El-SayedSigne M LyngbyMiriam G PedersenCharlotte Stenum-BergLouise Claudia WalkerIlona KreyAndrée Delahaye-DuriezLisa T EmrickKrystal SullyChaya N MuraliLindsay C BurrageJulie Ana Plaud GonzalezMered ParnesJennifer FriedmanBertrand IsidorJérémie LefrancSylvia RedonDelphine HeronCyril MignotBoris KerenMélanie FradinChristele DubourgSandra MercierThomas BesnardBenjamin CogneWallid DebClotilde RivierDonatella MilaniMaria Francesca BedeschiClaudia Di NapoliFederico GrilliPaola MarchisioSuzanna KoudijsDanielle VeenmaEmanuela ArgilliSally Ann LynchPing Yee Billie AuFernando Eduardo Ayala ValenzuelaCarolyn BrownDiane Masser-FryeMarilyn JonesLeslie Patron RomeroWenhui Laura LiErin ThorpeLaura HecherJessika JohannsenJonas DeneckeVanda McNivenAnna SzutoEmma WakelingVincent CruzValerie SencyHeng WangJuliette PiardFanny KortümTheresia HergetTatjana BierhalsAngelo CondellBruria Ben-ZeevSimranpreet KaurJohn ChristodoulouAmelie PitonChristiane ZweierCornelia KrausAlessia MicalizziMarina TrivisanoNicola SpecchioGaetan LescaRikke S MøllerZeynep TümerMaria MusgaardBenedicte GerardJohannes R LemkeYun Stone ShiAnders S Kristensen
Rinaldi, B, Bayat, A, Zachariassen, L G, Sun, J-H, Ge, Y-H, Zhao, D, Bonde, K, Madsen, L H, Awad, I A A, Bagiran, D, Sbeih, A, Shah, S M, El-Sayed, S, Lyngby, S M, Pedersen, M G, Stenum-Berg, C, Walker, L C, Krey, I, Delahaye-Duriez, A, Emrick, L T, Sully, K, Murali, C N, Burrage, L C, Plaud Gonzalez, J A, Parnes, M, Friedman, J, Isidor, B, Lefranc, J, Redon, S, Heron, D, Mignot, C, Keren, B, Fradin, M, Dubourg, C, Mercier, S, Besnard, T, Cogne, B, Deb, W, Rivier, C, Milani, D, Bedeschi, M F, Di Napoli, C, Grilli, F, Marchisio, P, Koudijs, S, Veenma, D, Argilli, E, Lynch, S A, Au, P Y B, Ayala Valenzuela, F E, Brown, C, Masser-Frye, D, Jones, M, Patron Romero, L, Li, W L, Thorpe, E, Hecher, L, Johannsen, J, Denecke, J, McNiven, V, Szuto, A, Wakeling, E, Cruz, V, Sency, V, Wang, H, Piard, J, Kortüm, F, Herget, T, Bierhals, T, Condell, A, Zeev, B B, Kaur, S, Christodoulou, J, Piton, A, Zweier, C, Kraus, C, Micalizzi, A, Trivisano, M, Specchio, N, Lesca, G, Møller, R S, Tümer, Z, Musgaard, M, Gerard, B, Lemke, J R, Shi, Y S & Kristensen, A S 2024, ' Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes ', Brain, vol. 147, no. 5, pp. 1837-1855 . https://doi.org/10.1093/brain/awad403
Rinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M; Pedersen, Miriam G; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andrée; Emrick, Lisa T; ... (2024). Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. Brain : a journal of neurology, 147(5), pp. 1837-1855. Oxford University Press 10.1093/brain/awad403
Academic Journal
Eur J Hum Genet
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
European journal of human genetics, vol. 31, no. 11, pp. 1251-1260
Oppermann, H, Marcos-Grañeda, E, Weiss, L A, Gurnett, C A, Jelsig, A M, Vineke, S H, Isidor, B, Mercier, S, Magnussen, K, Zacher, P, Hashim, M, Pagnamenta, A T, Race, S, Srivastava, S, Frazier, Z, Maiwald, R, Pergande, M, Milani, D, Rinelli, M, Levy, J, Krey, I, Fontana, P, Lonardo, F, Riley, S, Kretzer, J, Rankin, J, Reis, L M, Semina, E V, Reuter, M S, Scherer, S W, Iascone, M, Weis, D, Fagerberg, C R, Brasch-Andersen, C, Hansen, L K, Kuechler, A, Noble, N, Gardham, A, Tenney, J, Rathore, G, Beck-Woedl, S, Haack, T B, Pavlidou, D C, Atallah, I, Vodopiutz, J, Janecke, A R, Hsieh, T-C, Lesmann, H, Klinkhammer, H, Krawitz, P M, Lemke, J R, Jamra, R A, Nieto, M, Tümer, Z & Platzer, K 2023, ' CUX1-related neurodevelopmental disorder : deep insights into phenotype-genotype spectrum and underlying pathology ', European journal of human genetics : EJHG, vol. 31, no. 11, pp. 1251-1260 . https://doi.org/10.1038/s41431-023-01445-2
Academic Journal
Heba MorsyMehdi BenkiraneElisa CaliClarissa RoccaKristina ZhelcheskaValentina CiprianiEvangelia GalanakiReza MaroofianStephanie EfthymiouDavid MurphyMary O’DriscollMohnish SuriSiddharth BankaJill Clayton-SmithThomas WrightMelody RedmanJennifer A. BassettiMathilde NizonBenjamin CogneRami Abu JamraTobias BartolomaeusMarion HeruthIlona KreyJanina Gburek-AugustatDagmar WieczorekFelix GattermannMeriel McentagartAlice GoldenbergLucie Guyant-MarechalHector Garcia-MorenoPaola GiuntiBrigitte ChabrolSeverine BacrotRoger BuissonnièreVirginie MagryVykuntaraju K. GowdaVarunvenkat M. SrinivasanBéla MeleghAndrás SzabóKatalin SümegiMireille CosséeMonica ZiffRussell ButterfieldDavid HuntGeorgina Bird-LiebermanMichael HannaMichel KoenigMichael StankewichJana VandrovcovaHenry HouldenJ.C. AmbroseP. ArumugamE.L. BapleM. BledaF. Boardman-PrettyJ.M. BoissiereC.R. BoustredH. BrittainM.J. CaulfieldG.C. ChanC.E.H. CraigL.C. DaughertyA. de BurcaA. DevereauG. ElgarR.E. FoulgerT. FowlerP. Furió-TaríJ.M. HackettD. HalaiA. HamblinS. HendersonJ.E. HolmanT.J.P. HubbardK. IbáñezR. JacksonL.J. JonesD. KasperaviciuteM. KayikciL. LahnsteinK. LawsonS.E.A. LeighI.U.S. LeongF.J. LopezF. Maleady-CroweJ. MasonE.M. McDonaghL. MoutsianasM. MuellerN. MurugaesuA.C. NeedC.A. OdhamsC. PatchD. Perez-GilD. PolychronopoulosJ. PullingerT. RahimA. RendonP. Riesgo-FerreiroT. RogersM. RytenK. SavageK. SawantR.H. ScottA. SiddiqA. SieghartD. SmedleyK.R. SmithA. SosinskyW. SpoonerH.E. StevensA. StuckeyR. SultanaE.R.A. ThomasS.R. ThompsonC. TregidgoA. TucciE. WalshS.A. WattersM.J. WellandE. WilliamsK. WitkowskaS.M. WoodM. Zarowiecki
Genet Med
Queen Square Genomics, Genomics England Research Consortium, Morsy, H, Benkirane, M, Cali, E, Rocca, C, Zhelcheska, K, Cipriani, V, Galanaki, E, Maroofian, R, Efthymiou, S, O'Driscoll, M, Suri, M, Banka, S, Clayton-Smith, J, Redman, M, Bassetti, J A, Nizon, M, Cogne, B, Jamra, R A, Bartolomaeus, T, Heruth, M, Krey, I, Gburek-Augustat, J, Wieczorek, D, Gattermann, F, Mcentagart, M, Goldenberg, A, Guyant-Marechal, L, Garcia-Moreno, H, Giunti, P, Chabrol, B, Bacrot, S, Buissonnière, R, Magry, V, Gowda, V K, Srinivasan, V M, Melegh, B, Szabó, A, Sümegi, K, Cossée, M, Ziff, M, Butterfield, R, Hunt, D, Bird-Lieberman, G, Hanna, M, Koenig, M, Stankewich, M, Vandrovcova, J & Houlden, H 2023, 'Expanding SPTAN1 monoallelic variant associated disorders : From epileptic encephalopathy to pure spastic paraplegia and ataxia', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 1, pp. 76-89. https://doi.org/10.1016/j.gim.2022.09.013
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