학술논문


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'학술논문' 에서 검색결과 536건 | 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
Keng Ioi VongSangmoon LeeKit Sing AuT. Blaine CrowleyValeria CapraJeremiah MartinoMeade HallerCamila AraújoHélio R. MachadoRenee GeorgeBryn GerdingKiely N. JamesValentina StanleyNan JiangKameron AluNaomi MeaveAnna S. NidhiryFiza JiwaniIsaac TangAshna NisalIshani JhambArzoo PatelAakash PatelJennifer McEvoy-VenneriChelsea BarrowsCelina ShenYoo-Jin HaRobyn HowarthMadison StrainAllison Elizabeth Ashley-KochMatloob AzamSara MumtazGyang Markus BotRichard H. FinnellZoha KibarAhmed I. MarwanGia MelikishviliHal S. MeltzerOsvaldo M. MutchinickDavid A. StevensonHenry J. MroczkowskiBetsy OstranderErica SchindewolfJulie MoldenhauerElaine H. ZackaiBeverly S. EmanuelSixto Garcia-MinaurBeata A. NowakowskaRoger E. StevensonMaha S. ZakiHope NorthrupHanna K. McNamaraKimberly A. AldingerIan G. PhelpsMei DengIan A. GlassBernice MorrowDonna M. McDonald-McGinnSimone Sanna-CherchiDolores J. LambJoseph G. GleesonAllison Elizabeth Ashley KochJoan LePhilip J. LupoHelio R. MachadoTony MaganaAnna YurritaJosé Ramón Medina-BereciartuCaroline M. KolvenbachShirlee ShrilFriedhelm HildebrandtMahmoud M. NoureldeenAida MS. SalemYukitoshi TakahashiHormos Salimi-DafsariH. Westley PhillipsBrian HanakBülent KaraAyfer Sakarya GüneşDavid D. GondaSalman KirmaniTinatin Tkemaladze
Science, vol 384, iss 6695
Academic Journal
Genetics in Medicine
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Institut de Recerca Germans Trias i Pujol (IGTP)
Rodríguez-Palmero, A, Boerrigter, M M, Gómez-Andrés, D, Aldinger, K A, Marcos-Alcalde, Í, Popp, B, Everman, D B, Lovgren, A K, Arpin, S, Bahrambeigi, V, Beunders, G, Bisgaard, A M, Bjerregaard, V A, Bruel, A L, Challman, T D, Cogné, B, Coubes, C, de Man, S A, Denommé-Pichon, A S, Dye, T J, Elmslie, F, Feuk, L, García-Miñaúr, S, Gertler, T, Giorgio, E, Gruchy, N, Haack, T B, Haldeman-Englert, C R, Haukanes, B I, Hoyer, J, Hurst, A C E, Isidor, B, Soller, M J, Kushary, S, Kvarnung, M, Landau, Y E, Leppig, K A, Lindstrand, A, Kleinendorst, L, MacKenzie, A, Mandrile, G, Mendelsohn, B A, Moghadasi, S, Morton, J E, Moutton, S, Müller, A J, O’Leary, M, Pacio-Míguez, M, Palomares-Bralo, M, Parikh, S, Pfundt, R, Pode-Shakked, B, Rauch, A, Repnikova, E, Revah-Politi, A, Ross, M J, Ruivenkamp, C A L, Sarrazin, E, Savatt, J M, Schlüter, A, Schönewolf-Greulich, B, Shad, Z, Shaw-Smith, C, Shieh, J T, Shohat, M, Spranger, S, Thiese, H, Mau-Them, F T, van Bon, B, van de Burgt, I, van de Laar, I M B H, van Drie, E, van Haelst, M M, van Ravenswaaij-Arts, C M, Verdura, E, Vitobello, A, Waldmüller, S, Whiting, S, Zweier, C, Prada, C E, de Vries, B B A, Dobyns, W B, Reiter, S F, Gómez-Puertas, P, Pujol, A & Tümer, Z 2021, 'DLG4-related synaptopathy : a new rare brain disorder', Genetics in Medicine, vol. 23, no. 5, pp. 888-899. https://doi.org/10.1038/s41436-020-01075-9
Genetics in Medicine, 23, 5, pp. 888-899
Academic Journal
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Academic Journal
Dong LiQin WangAllan BayatMark R. BattigYijing ZhouDaniëlle G.M. BoschGijs van HaaftenLeslie GrangerAndrea K. PetersenLuis A. Pérez-JuradoGemma Aznar-LaínAnushree AnejaMiroslava HancarovaSarka BendovaMartin SchwarzRadka Kremlikova PourovaZdenek SedlacekBeth A. KeenaMichael E. MarchCuiping HouNora O’ConnorElizabeth J. BhojMargaret H. HarrGabrielle LemireKym M. BoycottMeghan TowneMegan LiMark TarnopolskyLauren BradyMichael J. ParkerHanna FaghfouryLea Kristin ParsleyEmanuele AgoliniMaria Lisa DenticiAntonio NovelliMeredith WrightRachel PalmquistKhanh LaiMarcello ScalaPasquale StrianoMichele IacominoFederico ZaraAnnina CooperTimothy J. MaarupMelissa BylerRobert Roger LebelTugce B. BalciRaymond LouieMichael LyonsJessica DouglasCatherine NowakAlexandra AfenjarJuliane HoyerBoris KerenSaskia M. MaasMahdi M. MotazackerJulian A. Martinez-AgostoAhna M. RabaniElizabeth M. McCormickMarni J. FalkSarah M. RuggieroIngo HelbigRikke S. MøllerLino TessarolloFrancesco Tomassoni ArdoriMary Ellen PalkoTzung-Chien HsiehPeter M. KrawitzMythily GanapathiBruce D. GelbVaidehi JobanputraAshley WilsonJohn GreallySébastien JacquemontKhadijé JiziAnge-Line BruelChloé QuelinVinod K. MisraErika ChickCorrado RomanoDonatella GrecoAlessia ArenaManuela MorleoVincenzo NigroRie SeyamaYuri UchiyamaNaomichi MatsumotoRyoji TairaKatsuya TashiroYasunari SakaiGökhan YigitBernd WollnikMichael WagnerBarbara KutscheAnna C.E. HurstMichelle L. ThompsonRyan SchmidtLinda RandolphRebecca C. SpillmannVandana ShashiEdward J. HigginbothamDawn CordeiroAmanda CarnevaleGregory CostainTayyaba KhanBenoît FunalotFrederic Tran Mau-ThemLuis Fernandez Garcia MoyaSixto García-MiñaúrMatthew OsmondLauren ChadNada QuerciaDiana CarrascoChumei LiAmarilis Sanchez-ValleMeghan KelleyMathilde NizonBrynjar O. JenssonPatrick SulemKari StefanssonSvetlana GorokhovaTiffany BusaMarlène RioHamza Hadj HabdallahMarion Lesieur-SebellinJeanne AmielVéronique PingaultSandra MercierMarie VincentChristophe PhilippeClemence Fatus-FauconnierKathryn FriendRebecca K. HalliganSunita BiswasJane RosserCheryl ShoubridgeMark CorbettChristopher BarnettJozef GeczKathleen LeppigAnne SlavotinekCarlo MarcelisRolph PfundtBert B.A. de VriesMarjon A. van SlegtenhorstAlice S. BrooksBenjamin CogneThomas RambaudZeynep TümerElaine H. ZackaiNaiara AkizuYuanquan SongHakon Hakonarson
J Clin Invest
Population and Environment, 134, 1
Li, D, Wang, Q, Bayat, A, Battig, M R, Zhou, Y, Bosch, D G M, van Haaften, G, Granger, L, Petersen, A K, Pérez-Jurado, L A, Aznar-Laín, G, Aneja, A, Hancarova, M, Bendova, S, Schwarz, M, Pourova, R K, Sedlacek, Z, Keena, B A, March, M E, Hou, C, O’Connor, N, Bhoj, E J, Harr, M H, Lemire, G, Boycott, K M, Towne, M, Li, M, Tarnopolsky, M, Brady, L, Parker, M J, Faghfoury, H, Parsley, L K, Agolini, E, Dentici, M L, Novelli, A, Wright, M, Palmquist, R, Lai, K, Scala, M, Striano, P, Iacomino, M, Zara, F, Cooper, A, Maarup, T J, Byler, M, Lebel, R R, Balci, T B, Louie, R, Lyons, M, Douglas, J, Nowak, C, Afenjar, A, Hoyer, J, Keren, B, Maas, S M, Motazacker, M M, Martinez-Agosto, J A, Rabani, A M, McCormick, E M, Falk, M J, Ruggiero, S M, Helbig, I, Møller, R S, Tessarollo, L, Ardori, F T, Palko, M E, Hsieh, T C, Krawitz, P M, Ganapathi, M, Gelb, B D, Jobanputra, V, Wilson, A, Greally, J, Jacquemont, S, Jizi, K, Bruel, A L, Quelin, C, Misra, V K, Chick, E, Romano, C, Greco, D, Arena, A, Morleo, M, Nigro, V, Seyama, R, Uchiyama, Y, Matsumoto, N, Taira, R, Tashiro, K, Sakai, Y, Yigit, G, Wollnik, B, Wagner, M, Kutsche, B, Hurst, A C E, Thompson, M L, Schmidt, R, Randolph, L, Spillmann, R C, Shashi, V, Higginbotham, E J, Cordeiro, D, Carnevale, A, Costain, G, Khan, T, Funalot, B, Mau-Them, F T, Garcia Moya, L F, García-Miñaúr, S, Osmond, M, Chad, L, Quercia, N, Carrasco, D, Li, C, Sanchez-Valle, A, Kelley, M, Nizon, M, Jensson, B O, Sulem, P, Stefansson, K, Gorokhova, S, Busa, T, Rio, M, Habdallah, H H, Lesieur-Sebellin, M, Amiel, J, Pingault, V, Mercier, S, Vincent, M, Philippe, C, Fatus-Fauconnier, C, Friend, K, Halligan, R K, Biswas, S, Rosser, J, Shoubridge, C, Corbett, M, Barnett, C, Gecz, J, Leppig, K, Slavotinek, A, Marcelis, C, Pfundt, R, de Vries, B B A, van Slegtenhorst, M A, Brooks, A S, Cogne, B, Rambaud, T, Tümer, Z, Zackai, E H, Akizu, N, Song, Y & Hakonarson, H 2024, ' Spliceosome malfunction causes neurodevelopmental disorders with overlapping features ', Journal of Clinical Investigation, vol. 134, no. 1, e171235 . https://doi.org/10.1172/JCI171235
Academic Journal
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
Universidad Francisco de Vitoria
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Human mutation, vol. 43, no. 2, pp. 266-282
Kumble, S & Undiagnosed Diseases Network 2022, ' The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder ', Human Mutation, vol. 43, no. 2, pp. 266-282 . https://doi.org/10.1002/humu.24308
Tümer, Z & Undiagnosed Diseases Network 2022, ' The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder ', Human Mutation, vol. 43, no. 2, pp. 266-282 . https://doi.org/10.1002/humu.24308
Academic Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-FISABIO. Repositorio Institucional de Producción Científica
CLINICAL GENETICS
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r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Digital.CSIC. Repositorio Institucional del CSIC
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Academic Journal
Antonarakis, Stylianos E.Biondi, MassimoBoot, ErikBreetvelt, ElemiBusa, TiffanyButcher, NancyBuzzanca, AntoninoCarmel, MiriCleynen, IsabelleCutler, DavidDallapiccola, Brunode la Fuente Sanches, María AngelesEpstein, Michael P.Evers, RensFernandez, LuisFritsch, RosemarieAlgas, Fernando GarcíaGuo, TingweiGur, RaquelHestand, Matthew S.Heung, TracyHooper, StephenJin, AndreaKushan-Wells, LeilaLaorden-Nieto, Alejandra TeresaLattanzi, GuidoMarshall, ChristianMcCabe, KathrynMichaelovsky, ElenaOrnstein, ClaudiaSilversides, CandiceTran, Oanhvan Duin, Esther D.A.Vergaelen, ElfiWarren, Steve T.Weinberger, RonnieWeizman, AbrahamZhang, ZhengdongZwick, MichaelZhao, YingjieDiacou, AlexanderJohnston, H. RichardMusfee, Fadi I.McDonald-McGinn, Donna M.McGinn, DanielCrowley, T. BlaineRepetto, Gabriela M.Swillen, AnnBreckpot, JeroenVermeesch, Joris R.Kates, Wendy R.Digilio, M. CristinaUnolt, MartaMarino, BrunoPontillo, MariaArmando, MarcoDi Fabio, FabioVicari, Stefanovan den Bree, MarianneMoss, HayleyOwen, Michael J.Murphy, Kieran C.Murphy, Clodagh M.Murphy, DeclanSchoch, KellyShashi, VandanaTassone, FloraSimon, Tony J.Shprintzen, Robert J.Campbell, LindaPhilip, NicoleHeine-Suñer, DamianGarcía-Miñaúr, SixtoFernández, LuisBearden, Carrie E.Vingerhoets, Claudiavan Amelsvoort, ThereseEliez, StephanSchneider, MaudeVorstman, Jacob A.S.Gothelf, DoronZackai, ElaineAgopian, A.J.Gur, Raquel E.Bassett, Anne S.Emanuel, Beverly S.Goldmuntz, ElizabethMitchell, Laura E.Wang, TaoMorrow, Bernice E.
In The American Journal of Human Genetics 2 January 2020 106(1):26-40
Academic Journal
Cleynen, IsabelleEngchuan, WorrawatHestand, Matthew S.Heung, TracyHolleman, Aaron M.Johnston, H. RichardMonfeuga, ThomasMcDonald-McGinn, Donna M.Gur, Raquel E.Morrow, Bernice E.Swillen, AnnVorstman, Jacob A. S.Bearden, Carrie E.Chow, Eva W. C.van den Bree, MarianneEmanuel, Beverly S.Vermeesch, Joris R.Warren, Stephen T.Owen, Michael J.Chopra, PankajCutler, David J.Duncan, RichardKotlar, Alex V.Mulle, Jennifer G.Voss, Anna J.Zwick, Michael E.Diacou, AlexanderGolden, AaronGuo, TingweiLin, Jhih-RongWang, TaoZhang, ZhengdongZhao, YingjieMarshall, ChristianMerico, DanieleJin, AndreaLilley, BrennaSalmons, Harold I.Tran, OanhHolmans, PeterPardinas, AntonioWalters, James T. R.Demaerel, WolframBoot, ErikButcher, Nancy J.Costain, Gregory A.Lowther, ChelseaEvers, Rensvan Amelsvoort, Therese A. M. J.van Duin, EstherVingerhoets, ClaudiaBreckpot, JeroenDevriendt, KoenVergaelen, ElfiVogels, AnnickCrowley, T. BlaineMcGinn, Daniel E.Moss, Edward M.Sharkus, Robert J.Unolt, MartaZackai, Elaine H.Calkins, Monica E.Gallagher, Robert S.Gur, Ruben C.Tang, Sunny X.Fritsch, RosemarieOrnstein, ClaudiaRepetto, Gabriela M.Breetvelt, ElemiDuijff, Sasja N.Fiksinski, AniaMoss, HayleyNiarchou, MariaMurphy, Kieran C.Prasad, Sarah E.Daly, Eileen M.Gudbrandsen, MariaMurphy, Clodagh M.Murphy, Declan G.Buzzanca, AntonioFabio, Fabio DiDigilio, Maria C.Pontillo, MariaMarino, BrunoVicari, StefanoColeman, KarleneCubells, Joseph F.Ousley, Opal Y.Carmel, MiriGothelf, DoronMekori-Domachevsky, EhudMichaelovsky, ElenaWeinberger, RonnieWeizman, AbrahamKushan, LeilaJalbrzikowski, MariaArmando, MarcoEliez, StéphanSandini, CorradoSchneider, MaudeBéna, Frédérique SloanAntshel, Kevin M.Fremont, WandaKates, Wendy R.Belzeaux, RaoulBusa, TiffanyPhilip, NicoleCampbell, Linda E.McCabe, Kathryn L.Hooper, Stephen R.Schoch, KellyShashi, VandanaSimon, Tony J.Tassone, FloraArango, CelsoFraguas, DavidGarcía-Miñaúr, SixtoMorey-Canyelles, JaumeRosell, JordiSuñer, Damià H.Raventos-Simic, JasnaEpstein, Michael P.Williams, Nigel M.Bassett, Anne S.
Molecular Psychiatry. 26(8):4496-4510
Academic Journal
Pacio Miguez M; Servicio de Genética, Hospital Universitario Ramón y Cajal, Madrid, Spain; Instituto de Investigación Sanitaria Illes Balears (IdISBa), Palma de Mallorca, Spain.; García-Miñaúr S; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPaz, Madrid, Spain; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; European Reference Network, ERN ITHACA, Madrid, Spain; Instituto de Investigación Sanitaria Illes Balears (IdISBa), Palma de Mallorca, Spain.; Del Pozo Á; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPaz, Madrid, Spain; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Illes Balears (IdISBa), Palma de Mallorca, Spain.; Menéndez Suso JJ; Servicio de Cuidados Intensivos Pediátricos, Hospital Universitario La Paz, Madrid, Spain; Instituto de Investigación Sanitaria Illes Balears (IdISBa), Palma de Mallorca, Spain.; Climent Alcalá FJ; Unidad de Patología Compleja Pediátrica, Hospital Universitario La Paz, Madrid, Spain; Instituto de Investigación Sanitaria Illes Balears (IdISBa), Palma de Mallorca, Spain.; Sánchez Holgado M; Unidad de Cuidados Intensivos Neonatales, Hospital Universitario La Paz, Madrid, Spain; Instituto de Investigación Sanitaria Illes Balears (IdISBa), Palma de Mallorca, Spain.; Álvarez García P; Unidad de Cuidados Intensivos Neonatales, Hospital Universitario La Paz, Madrid, Spain; Instituto de Investigación Sanitaria Illes Balears (IdISBa), Palma de Mallorca, Spain.; Jiménez Rodríguez C; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPaz, Madrid, Spain; Instituto de Investigación Sanitaria Illes Balears (IdISBa), Palma de Mallorca, Spain.; Santos-Simarro F; Unidad de Diagnóstico Molecular y Genética Clínica, Hospital Universitari Son Espases, Palma de Mallorca, Spain; Instituto de Investigación Sanitaria Illes Balears (IdISBa), Palma de Mallorca, Spain. Electronic address: fernando.santos@ssib.es.; Palomares-Bralo M; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPaz, Madrid, Spain; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; European Reference Network, ERN ITHACA, Madrid, Spain; Instituto de Investigación Sanitaria Illes Balears (IdISBa), Palma de Mallorca, Spain. Electronic address: maria.palomares@salud.madrid.org.
Publisher: Elsevier Country of Publication: Spain NLM ID: 101765626 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2341-2879 (Electronic) Linking ISSN: 23412879 NLM ISO Abbreviation: An Pediatr (Engl Ed) Subsets: MEDLINE
Conference
EUROPEAN JOURNAL OF HUMAN GENETICS
r-FISABIO. Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
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[검색어] Garcia-Minaur, S.
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