학술논문


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'학술논문' 에서 검색결과 338건 | 목록 1~20
Academic Journal
Johannesen, Katrine MLiu, YuanyuanKoko, MahmoudGjerulfsen, Cathrine ESonnenberg, LukasSchubert, JulianFenger, Christina DEltokhi, AhmedRannap, MaertKoch, Nils ALauxmann, StephanKrüger, JohannaKegele, JosuaCanafoglia, LauraFranceschetti, SilvanaMayer, ThomasRebstock, JohannesZacher, PiaRuf, SusanneAlber, MichaelSterbova, KatalinLassuthová, PetraVlckova, MarketaLemke, Johannes RPlatzer, KonradKrey, IlonaHeine, ConstanzeWieczorek, DagmarKroell-Seger, JudithLund, CarolineKlein, Karl MartinAu, P Y BillieRho, Jong MHo, Alice WMasnada, SilviaVeggiotti, PierangeloGiordano, LucioAccorsi, PatriziaHoei-Hansen, Christina EStriano, PasqualeZara, FedericoVerhelst, HeleneVerhoeven, Judith SBraakman, Hilde M Hvan der Zwaag, BertHarder, Aster V EBrilstra, EvaPendziwiat, ManuelaLebon, SebastianVaccarezza, MariaLe, Ngoc MinhChristensen, JakobGrønborg, SabineScherer, Stephen WHowe, JenniferFazeli, WalidHowell, Katherine BLeventer, RichardStutterd, ChloeWalsh, SonjaGerard, MarionGerard, BénédicteMatricardi, SaraBonardi, Claudia MSartori, StefanoBerger, AndreaHoffman-Zacharska, DorotaMastrangelo, MassimoDarra, FrancescaVøllo, ArveMotazacker, M MahdiLakeman, PhillisNizon, MathildeBetzler, CorneliaAltuzarra, CeciliaCaume, RoselineRoubertie, AgatheGélisse, PhilippeMarini, CarlaGuerrini, RenzoBilan, FredericTibussek, DanielKoch-Hogrebe, MargaretePerry, M ScottIchikawa, ShojiDadali, ElenaSharkov, ArtemMishina, IrinaAbramov, MikhailKanivets, IlyaKorostelev, SergeyKutsev, SergeyWain, Karen EEisenhauer, NancyWagner, MonisaSavatt, Juliann MMüller-Schlüter, KarenBassan, HaimBorovikov, ArtemNassogne, Marie CecileDestrée, AnneSchoonjans, An SofieMeuwissen, MarijeBuzatu, MargaJansen, AnnaScalais, EmmanuelSrivastava, SiddharthTan, Wen HannOlson, Heather ELoddenkemper, TobiasPoduri, AnnapurnaHelbig, Katherine LHelbig, IngoFitzgerald, Mark PGoldberg, Ethan MRoser, TimoBorggraefe, IngoBrünger, TobiasMay, PatrickLal, DennisLederer, DamienRubboli, GuidoHeyne, Henrike OLesca, GaetanHedrich, Ulrike B SBenda, JanGardella, ElenaLerche, HolgerMøller, Rikke S
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B N, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, 'Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications', Brain, vol. 145, no. 9, pp. 2991-3009. https://doi.org/10.1093/brain/awab321
Brain, Vol. 145, no.9, p. 2991-3009 (2022)
Brain
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321
Johannesen, K M, Liu, Y, Gjerulfsen, C E, Koko, M, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N, Lauxmann, S, Krueger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthova, P, Vlckova, M, Lemke, J, Krey, I, Heine, C, Wieczorek, D, Kroell, J, Lund, C, Klein, K M, Au, P B, Rho, J, Ho, A, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoi-Hansen, C, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, van der Zwaag, B, Harder, A, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Schmidt-Petersen, M, Gronborg, S, Scherer, S, Howe, J, Fazeli, W, Howell, K, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vollo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caumes, R, Roubertie, A, Gelisse, P, Marini, C, Guerrini, R, Bilan, F, Koch-Hogrebe, M, Perry, S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J, Mueller-Schlueter, K, Bassan, H, Borovikov, A, Nassogne, M-C, Destree, A, Schoonjans, A-S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W-H, Olson, H, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M, Goldberg, E M, Roser, T, Borggrafe, I, Brunger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Lesca, G, Hedrich, U, Benda, J, Gardella, E, Lerche, H & Moeller, R S 2021, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Epilepsia, vol. 62, no. Suppl. 3, 80, pp. 34-36 . https://doi.org/10.1111/epi.17079
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, 'Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications', Brain, vol. 145, no. 9, pp. 2991-3009. https://doi.org/10.1093/brain/awab321
Academic Journal
Bayat, A, Knaus, A, Juul, A W, Dukic, D, Gardella, E, Charzewska, A, Clement, E, Hjalgrim, H, Hoffman-Zacharska, D, Horn, D, Horton, R, Hurst, J A, Josifova, D, Larsen, L H G, Lascelles, K, Obersztyn, E, Pagnamenta, A, Pal, D K, Pendziwiat, M, Ryten, M, Taylor, J, Vogt, J, Weber, Y, Krawitz, P M, Helbig, I, Kini, U, Møller, R S & the DDD Study Group 2019, ' PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor : description of 13 novel patients and expansion of the clinical characteristics ', Genetics in Medicine, vol. 21, no. 10, pp. 2216-2223 . https://doi.org/10.1038/s41436-019-0512-3
Academic Journal
Epilepsia
Coppola, A, Cellini, E, Stamberger, H, Saarentaus, E, Cetica, V, Lal, D, Djemie, T, Bartnik-Glaska, M, Ceulemans, B, Cross, J H, Deconinck, T, De Masi, S, Dorn, T, Guerrini, R, Hoffman-Zacharska, D, Kooy, F, Lagae, L, Lench, N, Lemke, J R, Lucenteforte, E, Madia, F, Mefford, H C, Morrogh, D, Nuernberg, P, Palotie, A, Schoonjans, A-S, Striano, P, Szczepanik, E, Tostevin, A, Vermeesch, J R, Van Esch, H, Van Paesschen, W, Waters, J J, Weckhuysen, S, Zara, F, Jonghe, P D, Sisodiya, S M, Marini, C, EuroEPINOMICS RES Consortium, Moller, R S & Hjalgrim, H 2019, ' Diagnostic implications of genetic copy number variation in epilepsy plus ', Epilepsia, vol. 60, no. 4, pp. 689-706 . https://doi.org/10.1111/epi.14683
Academic Journal
Helbig, IngoLopez-Hernandez, TaniaShor, OdedGaler, PeterGanesan, ShivaPendziwiat, ManuelaRademacher, AnnikaEllis, ColinHümpfer, NadjaSchwarz, NiklasSeiffert, SimonePeeden, JosephShen, JosephŠtěrbová, KatalinHammer, Trine BjørgMøller, RikkeShinde, DeepaliTang, ShaSmith, LaceyPoduri, AnnapurnaKrause, RolandBenninger, FelixHelbig, KatherineHaucke, VolkerWeber, YvonneBalling, RudiBarisic, NinaBaulac, StéphanieCaglayan, HandeCraiu, Danade Jonghe, PeterDepienne, ChristelGuerrini, RenzoHjalgrim, HelleHoffman-Zacharska, DorotaJähn, JohannaKlein, Karl MartinKoeleman, Bobby P.C.Komarek, VladimirLeguern, EricLehesjoki, Anna-ElinaLemke, JohannesLerche, HolgerLinnankivi, TarjaMarini, CarlaMay, PatrickMuhle, HiltrudPal, DebPalotie, AarnoRosenow, FelixSchubert-Bast, SusanneSelmer, KajaSerratosa, JoseSisodiya, SanjayStephani, UlrichStriano, PasqualeSuls, ArvidTalvik, Tiinavon Spiczak, SarahWeckhuysen, SarahZara, FedericoAvillach, PaulBartels, AnnaBiswas, SawonaBourgeois, FlorenceDevkota, BatsalGlauser, TracyHallinan, BarbaraHeath, AllisonHirschhorn, JoelKilbourn, JudsonKong, Sek WonKrantz, IanLee, In-HeeMandl, KennethMarsh, EricSund, KristenTaylor, DeanneWhite, PeterJonghe, Peter DeLemke, Johannes R.Pal, Deb K.Serratosa, Jose M.Spiczak, Sarah VonMandl, Kenneth D.
Helbig, I, Lopez-Hernandez, T, Shor, O, Galer, P, Ganesan, S, Pendziwiat, M, Rademacher, A, Ellis, C A, Hümpfer, N, Schwarz, N, Seiffert, S, Peeden, J, Shen, J, Štěrbová, K, Hammer, T B, Møller, R S, Shinde, D N, Tang, S, Smith, L, Poduri, A, Krause, R, Benninger, F, Helbig, K L, Haucke, V, Weber, Y G, Balling, R, Barisic, N, Baulac, S, Caglayan, H, Craiu, D, De Jonghe, P, Depienne, C, Guerrini, R, Hjalgrim, H, Hoffman-Zacharska, D, Jähn, J, Klein, K M, Koeleman, B P C, Komarek, V, Leguern, E, Lehesjoki, A E, Lemke, J R, Lerche, H, Linnankivi, T, Marini, C, May, P, Muhle, H, Pal, D K, Palotie, A, Rosenow, F, the EuroEPINOMICS-RES Consortium & the GRIN Consortium 2019, ' A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy ', American Journal of Human Genetics, vol. 104, no. 6, pp. 1060-1072 . https://doi.org/10.1016/j.ajhg.2019.04.001
American Journal of Human Genetics, vol 104, iss 6
Academic Journal
Johannesen, K M, Gardella, E, Encinas, A C, Lehesjoki, A-E, Linnankivi, T, Petersen, M B, Lund, I C B, Blichfeldt, S, Miranda, M J, Pal, D K, Lascelles, K, Procopis, P, Orsini, A, Bonuccelli, A, Giacomini, T, Helbig, I, Fenger, C D, Sisodiya, S M, Hernandez-Hernandez, L, Krithika, S, Rumple, M, Masnada, S, Valente, M, Cereda, C, Giordano, L, Accorsi, P, Bürki, S E, Mancardi, M, Korff, C, Guerrini, R, von Spiczak, S, Hoffman-Zacharska, D, Mazurczak, T, Coppola, A, Buono, S, Vecchi, M, Hammer, M F, Varesio, C, Veggiotti, P, Lal, D, Brünger, T, Zara, F, Striano, P, Rubboli, G & Møller, R S 2019, 'The spectrum of intermediate SCN8A-related epilepsy', Epilepsia, vol. 60, no. 5, pp. 830-844. https://doi.org/10.1111/epi.14705
Epilepsia, Vol. 60, No 5 (2019) pp. 830-844
Johannesen, K M, Gardella, E, Encinas, A C, Lehesjoki, A E, Linnankivi, T, Petersen, M B, Lund, I C B, Blichfeldt, S, Miranda, M J, Pal, D K, Lascelles, K, Procopis, P, Orsini, A, Bonuccelli, A, Giacomini, T, Helbig, I, Fenger, C D, Sisodiya, S M, Hernandez-Hernandez, L, Krithika, S, Rumple, M, Masnada, S, Valente, M, Cereda, C, Giordano, L, Accorsi, P, Bürki, S E, Mancardi, M, Korff, C, Guerrini, R, von Spiczak, S, Hoffman-Zacharska, D, Mazurczak, T, Coppola, A, Buono, S, Vecchi, M, Hammer, M F, Varesio, C, Veggiotti, P, Lal, D, Brünger, T, Zara, F, Striano, P, Rubboli, G & Møller, R S 2019, ' The spectrum of intermediate SCN8A-related epilepsy ', Epilepsia, vol. 60, no. 5, pp. 830-844 . https://doi.org/10.1111/epi.14705
Academic Journal
Nature Genetics, Vol. 50, No 7 (2018) pp. 1048-1053
Nature Genetics
bioRxiv. Cold Spring Harbor Labs Journals (2017).
Heyne, H O, Singh, T, Stamberger, H, Abou Jamra, R, Caglayan, H, Craiu, D, De Jonghe, P, Guerrini, R, Helbig, K L, Koeleman, B P C, Kosmicki, J A, Linnankivi, T, May, P, Muhle, H, Møller, R S, Neubauer, B A, Palotie, A, Pendziwiat, M, Striano, P, Tang, S, Wu, S, Afawi, Z, De Kovel, C, Dimova, P, Djémié, T, Endziniene, M, Hoffman-Zacharska, D, Jähn, J, Korff, C, Lehesjoki, A E, Marini, C, Müller, S H, Pal, D, Schwarz, N, Selmer, K, Serratosa, J, Stephani, U, Štěrbová, K, Suls, A, Syrbe, S, Talvik, I, Tang, S, Von Spiczak, S, Zara, F, Poduri, A, Weber, Y G, Weckhuysen, S, Sisodiya, S M, Daly, M J & Helbig, I 2018, ' De novo variants in neurodevelopmental disorders with epilepsy ', Nature Genetics, vol. 50, no. 7, pp. 1048-1053 . https://doi.org/10.1038/s41588-018-0143-7
Academic Journal
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EUROPEAN JOURNAL OF HUMAN GENETICS
European journal of human genetics
Hjalgrim, H, Møller, R S, Epi4K Consortium, EuroEPINOMICS RES Consortium & Epilepsy Phenome Genome Project 2017, ' Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data ', European Journal of Human Genetics, vol. 25, no. 7, pp. 894-899 . https://doi.org/10.1038/ejhg.2017.61
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Academic Journal
Mol Genet Genomic Med
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Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine
de Kovel, C G F, Brilstra, E H, van Kempen, M J A, Van't Slot, R, Nijman, I J, Afawi, Z, De Jonghe, P, Djémié, T, Guerrini, R, Hardies, K, Helbig, I, Hendrickx, R, Kanaan, M, Kramer, U, Lehesjoki, A-E E, Lemke, J R, Marini, C, Mei, D, Møller, R S, Pendziwiat, M, Stamberger, H, Suls, A, Weckhuysen, S, Koeleman, B P C & EuroEPINOMICS RES Consortium 2016, ' Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients ', Molecular Genetics & Genomic Medicine, vol. 4, no. 5, pp. 568-580 . https://doi.org/10.1002/mgg3.235
Academic Journal
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Academic Journal
Syrbe, SteffenHedrichUlrike B. S.Riesch, ErikDjémié, TaniaMüller, StephanMøllerRikke S.Maher, BridgetHernandez HernandezLaura, SynofzikMatthis, CaglayanHande S.Arslan, MutluaySerratosaJosé M.Nothnagel, MichaelMay, PatrickKrause, RolandLöffler, HeidrunDetert, KatjaDorn, ThomasVogt, HeinrichKrämer, GünterSchöls, LudgerMullisPrimus E.Linnankivi, TarjaLehesjokiAnna ElinaSterbova, KatalinCraiuDana C.Hoffman ZacharskaDorota, KorffChristian M.WeberYvonne G.Steinlin, MajaGallati, SabinaBertsche, AstridBernhardMatthias K.Merkenschlager, AndreasKiess, WielandGonzalez, MichaelZüchner, StephanPalotie, AarnoSuls, ArvidDe JonghePeter, HelbigIngo, BiskupSaskia, WolffMarkus, MaljevicSnezana, SchüleRebecca, SisodiyaSanjay M.Weckhuysen, SarahLerche, HolgerLemkeJohannes R. Collaborators Balling RBarisic NBaulac SCaglayan HSCraiu DCDe Jonghe PDepienne CGormley PGUERRINI, RENZOHelbig IHjalgrim HHoffman Zacharska DJähn JKlein KMKoeleman BPKomarek VKrause RLeGuern ELehesjoki AELemke JRLerche HMarini CMay PMøller RSMuhle HPalotie APal DRosenow FSelmer KSerratosa JMSisodiya SMStephani USterbova KStriano PSuls ATalvik Tvon Spiczak SG. Weber YWeckhuysen SZara F. Balling RGuerrini RZara F.
Nat Genet
Nature genetics 47(4), 393-399 (2015). doi:10.1038/ng.3239
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Nature Genetics
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