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1دورية أكاديمية
المؤلفون: van Geest, FS, Groeneweg, S, van den Akker, ELT, Bacos, I, Barca, D, van den Berg, SAA, Bertini, E, Brunner, D, Brunetti-Pierri, N, Cappa, M, Cappuccio, G, Chatterjee, K, Chesover, AD, Christian, P, Coutant, R, Craiu, D, Crock, P, Dewey, C, Dica, A, Dimitri, P, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, Garibaldi, LR, George, B, Hackenberg, A, Heinrich, B, Huynh, T, Kłosowska, A, Lawson-Yuen, A, Linder-Lucht, M, Lyons, G, Monti Lora, F, Moran, C, Müller, KE, Paone, L, Paul, PG, Polak, M, Porta, F, Reinauer, C, de Rijke, YB, Seckold, R, Menevşe, TS, Simm, P, Simon, A, Spada, M, Stoupa, A, Szeifert, L, Tonduti, D, van Toor, H, Turan, S, Vanderniet, J, de Waart, M, van der Wal, R, van der Walt, A, van Wermeskerken, A-M, Wierzba, J, Zibordi, F, Zung, A, Peeters, RP, Visser, WE
العلاقة: pii: 6408637; van Geest, F. S., Groeneweg, S., van den Akker, E. L. T., Bacos, I., Barca, D., van den Berg, S. A. A., Bertini, E., Brunner, D., Brunetti-Pierri, N., Cappa, M., Cappuccio, G., Chatterjee, K., Chesover, A. D., Christian, P., Coutant, R., Craiu, D., Crock, P., Dewey, C., Dica, A. ,. Visser, W. E. (2022). Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study. Journal of Clinical Endocrinology and Metabolism, 107 (3), pp.e1136-e1147. https://doi.org/10.1210/clinem/dgab750Test.; http://hdl.handle.net/11343/307712Test
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2دورية أكاديميةA survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies
المؤلفون: Baumgartner T., Carreno M., Rocamora R., Bisulli F., Boni A., Brazdil M., Horak O., Craiu D., Pereira C., Guerrini R., San Antonio-Arce V., Schulze-Bonhage A., Zuberi S. M., Hallbook T., Kalviainen R., Lagae L., Nguyen S., Quintas S., Franco A., Cross J. H., Walker M., Arzimanoglou A., Rheims S., Granata T., Canafoglia L., Johannessen Landmark C., Sen A., Rattihalli R., Nabbout R., Tartara E., Santos M., Rangel R., Krsek P., Marusic P., Specchio N., Braun K. P. J., Smeyers P., Villanueva V., Kotulska K., Surges R., Tinuper P., Licchetta L., Michelucci R., Toulouse J., Panagiotakaki E., Ostrowsky-Coste K., Lesca G., de Curtis M., Elisak M., Domanska-Pakiea D., Sadowski K.
المساهمون: Baumgartner T., Carreno M., Rocamora R., Bisulli F., Boni A., Brazdil M., Horak O., Craiu D., Pereira C., Guerrini R., San Antonio-Arce V., Schulze-Bonhage A., Zuberi S.M., Hallbook T., Kalviainen R., Lagae L., Nguyen S., Quintas S., Franco A., Cross J.H., Walker M., Arzimanoglou A., Rheims S., Granata T., Canafoglia L., Johannessen Landmark C., Sen A., Rattihalli R., Nabbout R., Tartara E., Santos M., Rangel R., Krsek P., Marusic P., Specchio N., Braun K.P.J., Smeyers P., Villanueva V., Kotulska K., Surges R., Tinuper P., Licchetta L., Michelucci R., Toulouse J., Panagiotakaki E., Ostrowsky-Coste K., Lesca G., de Curtis M., Elisak M., Domanska-Pakiea D., Sadowski K.
مصطلحات موضوعية: autoimmune encephaliti, Dravet syndrome, orphan disease, progressive myoclonic epilepsy, targeted therapie, tuberous sclerosis complex
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000648553600018; volume:6; issue:1; firstpage:160; lastpage:170; numberofpages:11; journal:EPILEPSIA OPEN; info:eu-repo/grantAgreement/EC/FP7/602 391‐2; http://hdl.handle.net/11585/791516Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85099370222
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3دورية أكاديمية
المؤلفون: Coppola A., Cellini E., Stamberger H., Saarentaus E., Cetica V., Lal D., Djemie T., Bartnik-Glaska M., Ceulemans B., Helen Cross J., Deconinck T., Masi S. D., 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., Lehesjioki A. -E., Craiu D., Talvik T., Caglayan H., Serratosa J., Sterbova K., Moller R. S., Hjalgrim H., Lerche H., Weber Y., Helbig I., von Spiczak S., Barba C., Bogaerts A., Boni A., Galizia E. C., Chiari S., Di Gacomo G., Ferrari A., Guarducci S., Giglio S., Holmgren P., Leu C., Melani F., Novara F., Pantaleo M., Peeters E., Pisano T., Rosati A., Sander J., Schoeler N., Stankiewicz P., Striano S., Suls A., Traverso M., Vandeweyer G., Van Dijck A., Zuffardi O.
المساهمون: Coppola, A., Cellini, E., Stamberger, H., Saarentaus, E., Cetica, V., Lal, D., Djemie, T., Bartnik-Glaska, M., Ceulemans, B., Helen Cross, J., Deconinck, T., Masi, S. D., 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., Lehesjioki, A. -E., Craiu, D., Talvik, T., Caglayan, H., Serratosa, J., Sterbova, K., Moller, R. S., Hjalgrim, H., Lerche, H., Weber, Y., Helbig, I., von Spiczak, S., Barba, C., Bogaerts, A., Boni, A., Galizia, E. C., Chiari, S., Di Gacomo, G., Ferrari, A., Guarducci, S., Giglio, S., Holmgren, P., Leu, C., Melani, F., Novara, F., Pantaleo, M., Peeters, E., Pisano, T., Rosati, A., Sander, J., Schoeler, N., Stankiewicz, P., Striano, S., Suls, A., Traverso, M., Vandeweyer, G., Van Dijck, A., Zuffardi, O.
مصطلحات موضوعية: array CGH, copy number variant, epilepsy gene, SNP array
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30866059; info:eu-repo/semantics/altIdentifier/wos/WOS:000463267500012; volume:60; issue:4; firstpage:689; lastpage:706; numberofpages:18; journal:EPILEPSIA; http://hdl.handle.net/11568/996341Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85063785575
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4دورية أكاديمية
المؤلفون: Siekierska A., Stamberger H., Deconinck T., Oprescu S. N., Partoens M., Zhang Y., Sourbron J., Adriaenssens E., Mullen P., Wiencek P., Hardies K., Lee J. -S., Giong H. -K., Distelmaier F., Elpeleg O., Helbig K. L., Hersh J., Isikay S., Jordan E., Karaca E., Kecskes A., Lupski J. R., Kovacs-Nagy R., May P., Narayanan V., Pendziwiat M., Ramsey K., Rangasamy S., Shinde D. N., Spiegel R., Timmerman V., von Spiczak S., Helbig I., Balak C., Belnap N., Claasen A., Courtright A., de Both M., Huentelman M. J., Naymik M., Richholt R., Siniard A. L., Szelinger S., Craig D. W., Schrauwen I., Afawi Z., Balling R., Baulac S., Barisic N., Caglayan H. S., Craiu D., Guerrero-Lopez R., Guerrini R., Hjalgrim H., Jahn J., Klein K. M., Leguern E., Lemke J. R., Lerche H., Marini C., Moller R. S., Muhle H., Rosenow F., Serratosa J., Suls A., Stephani U., Sterbova K., Striano P., Zara F., Weckhuysen S., Francklyn C., Antonellis A., de Witte P., De Jonghe P.
المساهمون: Siekierska, A., Stamberger, H., Deconinck, T., Oprescu, S. N., Partoens, M., Zhang, Y., Sourbron, J., Adriaenssens, E., Mullen, P., Wiencek, P., Hardies, K., Lee, J. -S., Giong, H. -K., Distelmaier, F., Elpeleg, O., Helbig, K. L., Hersh, J., Isikay, S., Jordan, E., Karaca, E., Kecskes, A., Lupski, J. R., Kovacs-Nagy, R., May, P., Narayanan, V., Pendziwiat, M., Ramsey, K., Rangasamy, S., Shinde, D. N., Spiegel, R., Timmerman, V., von Spiczak, S., Helbig, I., Balak, C., Belnap, N., Claasen, A., Courtright, A., de Both, M., Huentelman, M. J., Naymik, M., Richholt, R., Siniard, A. L., Szelinger, S., Craig, D. W., Schrauwen, I., Afawi, Z., Balling, R., Baulac, S., Barisic, N., Caglayan, H. S., Craiu, D., Guerrero-Lopez, R., Guerrini, R., Hjalgrim, H., Jahn, J., Klein, K. M., Leguern, E., Lemke, J. R., Lerche, H., Marini, C., Moller, R. S., Muhle, H., Rosenow, F., Serratosa, J., Suls, A., Stephani, U., Sterbova, K., Striano, P., Zara, F., Weckhuysen, S., Francklyn, C., Antonellis, A., de Witte, P., De Jonghe, P.
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000458398900002; volume:10 Article number: 708 (2019); firstpage:708; lastpage:708; numberofpages:1; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11567/1021920Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85061489358
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5دورية أكاديمية
المؤلفون: Craiu, D., Haataja, L., Hollody, K., Krsek, P., Lagae, L. (Lieven), Mall, V., Parker, A.P.J., Steinlin, M., Yalnizoglu, D., Catsman-Berrevoets, C.E. (Coriene)
المصدر: European Journal of Paediatric Neurology vol. 28, pp. 6-15
مصطلحات موضوعية: Paediatric neurology, Training, Organization, Curriculum, EPNS European Paediatric Neurology syllabus, Specialty
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/131351Test; urn:hdl:1765/131351
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6دورية أكاديمية
المؤلفون: Mercuri, E, Muntoni, F, Osorio, AN, Tulinius, M, Buccella, F, Morgenroth, LP, Gordish-Dressman, H, Jiang, J, Trifillis, P, Zhu, L, Kristensen, A, Santos, CL, Henricson, EK, McDonald, CM, Desguerre, I, Bernert, G, Gosk-Tomek, M, Ille, A, Kellersmann, A, Weiss, S, Pilshofer, V, Balintova, Z, Danhofer, P, Fabulova, P, Jurikova, L, Fuchsova, P, Haberlova, J, Laffargue, F, Sarret, C, Pontier, B, Bellance, R, Sarrazin, E, Sabouraud, P, Magot, A, Mercier, S, Pereon, Y, Cuisset, JM, Coopman-Degryse, S, Enaud, E, Jacquemont, ML, Perville, A, Renouil, M, Trommsdorff, V, Verheulpen, D, Fontaine-Carbonnel, S, Vuillerot, C, Peudenier, S, Ropars, J, Audic, F, Chabrol, B, Chabrier, S, Gousse, G, Lagrue, E, Aragon, K, Barnerias, C, Brande, LV, De Lucia, S, Gidaro, T, Seferian, A, Servais, L, Laugel, V, Espil-Taris, C, Mecili, H, Raffo, E, Ragot-Mandry, S, Borrell, S, Kirschner, J, Gangfuss, A, Henrich, M, Kolbel, H, Schara, U, Sponemann, N, Temme, E, Seeger, J, Hirsch, A, Denecke, J, Johannsen, J, Neu, A, Osinski, D, Rugner, S, Schussler, S, Trollmann, R, Kaindl, A, Schneider, JB, Stoltenburg, C, Weiss, C, Schreiber, G, Hahn, A, Grzybowski, M, Pavlidou, E, Pavlou, E, Dobner, S, Liptai, Z, Dor, T, Brogna, C, Catteruccia, M, D'Amico, A, Pane, M, Bello, L, Pegoraro, E, Semplicini, C, Albamonte, E, Baranello, G, Comi, G, Govoni, A, Lerario, A, Magri, F, Masson, R, Mauri, E, Sansone, V, Brusa, C, Mongini, T, Ricci, F, Vacchetti, M, Bruno, C, Paniucci, C, Pedemonte, M, Giannotta, M, Pini, A, Messina, S, Sframeli, M, Vita, G, Ruggiero, L, Santoro, L, Craiu, D, Motoescu, C, Sandu, C, Teleanu, R, Vasile, D, Hughes, I, Childs, AM, Alhaswani, Z, Roper, H, Parasuraman, D, DeGoede, C, Gowda, V, Manzur, A, Munot, P, Sarkokzy, A, Charlesworth, C, Lemon, J, Turner, L, Spinty, S, Dubrovsky, A, Kornberg, A, Ryan, M, Webster, R, Biggar, WD, McAdam, LC, Mah, JK, Kolski, H, Vishwanathan, V, Chidambaranathan, S, Nevo, Y, Gorni, K, Carlo, J, Abresch, RT, Joyce, NC, Cnaan, A, Leshner, R, Tesi-Rocha, C, Thangarajh, M, Duong, T, Clemens, PR, Abdel-Hamid, H, Connolly, AM, Pestronk, A, Teasley, J, Harper, A, Bertorini, TE, Kuntz, N, Driscoll, S, Day, JW, Karachunski, P, Lotze, T
المساهمون: E. Mercuri, F. Muntoni, A. Osorio, M. Tuliniu, F. Buccella, L. Morgenroth, H. Gordish-Dressman, J. Jiang, P. Trifilli, L. Zhu, A. Kristensen, C. Santo, E. Henricson, C. Mcdonald, I. Desguerre, G. Bernert, M. Gosk-Tomek, A. Ille, A. Kellersmann, S. Wei, V. Pilshofer, Z. Balintova, P. Danhofer, P. Fabulova, L. Jurikova, P. Fuchsova, J. Haberlova, F. Laffargue, C. Sarret, B. Pontier, R. Bellance, E. Sarrazin, P. Sabouraud, A. Magot, S. Mercier, Y. Pereon, J. Cuisset, S. Coopman-Degryse, E. Enaud, M. Jacquemont, A. Perville, M. Renouil, V. Trommsdorff, D. Verheulpen, S. Fontaine-Carbonnel, C. Vuillerot, S. Peudenier, J. Ropar, F. Audic, B. Chabrol, S. Chabrier, G. Gousse, E. Lagrue, K. Aragon, C. Barneria, L. Brande, S. De Lucia, T. Gidaro, A. Seferian, L. Servai, V. Laugel, C. Espil-Tari, H. Mecili, E. Raffo, S. Ragot-Mandry, S. Borrell, J. Kirschner, A. Gangfu, M. Henrich, H. Kolbel, U. Schara, N. Sponemann, E. Temme, J. Seeger, A. Hirsch, J. Denecke, J. Johannsen, A. Neu, D. Osinski, S. Rugner, S. Schussler, R. Trollmann, A. Kaindl, J. Schneider, C. Stoltenburg, C. Wei, G. Schreiber, A. Hahn, M. Grzybowski, E. Pavlidou, E. Pavlou, S. Dobner, Z. Liptai, T. Dor, C. Brogna, M. Catteruccia, A. D'Amico, M. Pane
مصطلحات موضوعية: ataluren, dystrophin, effectivene, nonsense mutation Duchenne muscular dystrophy, safety, STRIDE Registry, Settore MED/26 - Neurologia
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000533276600004; volume:9; issue:5; firstpage:341; lastpage:360; numberofpages:20; journal:JOURNAL OF COMPARATIVE EFFECTIVENESS RESEARCH; http://hdl.handle.net/2434/853343Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85081222196
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7دورية أكاديمية
المؤلفون: Groeneweg, S, Van Geest, F. S, Abaci, A, Alcantud, A, Ambegaonkar, G. P, Armour, CM, Bakhtiani, P, Barca, D, Bertini, ES, van Beynum, IM, Brunetti-Pierri, N, Bugiani, M, Cappa, M, Cappuccio, G, Castellotti, B, Castiglioni, C, Chatterjee, K, de Coo, IFM, Coutant, R, Craiu, D, Crock, P, DeGoede, C, Demir, K, Dica, A, Dimitri, P, Dolcetta-Capuzzo, A, Dremmen, MHG, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, George, B, Gevers, EF, Hackenberg, A, Halasz, Z, Heinrich, B, Huynh, T, Klosowska, A, Van der Knaap, MS, Van der Knoop, MM, Konrad, D, Koolen, DA, Krude, H, Lawson-Yuen, A, Lebl, J, Linder-Lucht, M, Lorea, CF, Lourenco, CM, Lunsing, RJ, Lyons, G, Malikova, J, Mancilla, EE, McGowan, A, Mericq, V, Lora, FM, Moran, C, Muller, KE, Oliver-Petit, I, Paone, L, Paul, PG, Polak, M, Porta, F, Poswar, FO, Reinauer, C, Rozenkova, K, Menevse, TS, Simm, P, Simon, A, Singh, Y, Spada, M, van der Spek, J, Stals, MAM, Stoupa, A, Subramanian, GM, Tonduti, D, Turan, S, den Uil, CA, Vanderniet, J, van der Walt, A, Wemeau, JL, Wierzba, J, de Wit, MCY, Wolf, NI, Wurm, M, Zibordi, F, Zung, A, Zwaveling-Soonawala, N, Visser, WE
المصدر: The Lancet Diabetes and Endocrinology
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/S2213-8587Test(20)30153-4
https://repositorio.uchile.cl/handle/2250/190248Test -
8دورية أكاديميةA survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies
المؤلفون: Baumgartner, T, Carreño, M, Rocamora, R, Bisulli, F, Boni, A, Brázdil, M, Horak, O, Craiu, D, Pereira, C, Guerrini, R, San Antonio-Arce, V, Schulze-Bonhage, A, Zuberi, SM, Hallböök, T, Kalviainen, R, Lagae, L, Nguyen, S, Quintas, S, Franco, A, Cross, JH, Walker, M, Arzimanoglou, A, Rheims, S, Granata, T, Canafoglia, L, Johannessen Landmark, C, Sen, A, Rattihalli, R, Nabbout, R, Tartara, E, Santos, M, Rangel, R, Krsek, P, Marusic, P, Specchio, N, Braun, KPJ, Smeyers, P, Villanueva, V, Kotulska, K, Surges, R, Tinuper, P, Licchetta, L, Michelucci, R, Toulouse, J, Panagiotakaki, E, Ostrowsky-Coste, K, Lesca, G, de Curtis, M, Elisak, M, Domańska-Pakiea, D, Sadowski, K
المصدر: Epilepsia Open (2020) (In press).
مصطلحات موضوعية: autoimmune encephalitis, Dravet syndrome, orphan disease, progressive myoclonic epilepsy, targeted therapies, tuberous sclerosis complex
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10119811/1/epi4.12459.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10119811Test/
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9دورية أكاديمية
المؤلفون: Brunklaus, A, Du, J, Steckler, F, Ghanty, II, Johannesen, KM, Fenger, CD, Schorge, S, Baez-Nieto, D, Wang, H-R, Allen, A, Pan, JQ, Lerche, H, Heyne, H, Symonds, JD, Zuberi, SM, Sanders, S, Sheidley, BR, Craiu, D, Olson, HE, Weckhuysen, S, DeJonge, P, Helbig, I, Van Esch, H, Busa, T, Milh, M, Isidor, B, Depienne, C, Poduri, A, Campbell, AJ, Dimidschstein, J, Møller, RS, Lal, D
المصدر: Epilepsia , 61 (3) pp. 387-399. (2020)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10093116/3/Schorge_1Brunklaus%20Main_Manuscript%20for%20uploading.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10093116Test/
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10دورية أكاديمية
المؤلفون: Barba, C, Cross, JH, Braun, K, Cossu, M, Klotz, KA, De Masi, S, Perez Jimenez, MA, Gaily, E, Specchio, N, Cabral, P, Toulouse, J, Dimova, P, Battaglia, D, Freri, E, Consales, A, Cesaroni, E, Tarta-Arsene, O, Gil-Nagel, A, Mindruta, I, Di Gennaro, G, Giulioni, M, Tisdall, MM, Eltze, C, Tahir, MZ, Jansen, F, van Rijen, P, Sanders, M, Tassi, L, Francione, S, Lo Russo, G, Jacobs, J, Bast, T, Matta, G, Budke, M, Fournier del Castillo, C, Metsahonkala, E-L, Karppinen, A, Ferreira, JC, Minkin, K, Marras, CE, Arzimanoglou, A, Guerrini, R, Jacques, T, Varadkar, S, Colon, A, D'Orio, P, Pelliccia, V, Schulze-Bonhage, A, Syrbe, S, Buccoliero, A, Giordano, F, Garcia-Fernandez, M, Villarejo, F, De Palma, L, Pavia, GC, Canas, NM, Santos, A, Montavont, A, Ostrowsky-Coste, K, Gabrovski, K, Stoyanova, D, Tamburrini, G, Granata, T, Pacetti, M, Matricardi, S, Craiu, D, Aledo, A, Popa, I, Esposito, V, Lucenteforte, E
المصدر: Epilepsia , 61 (2) pp. 216-227. (2020)
مصطلحات موضوعية: children, epilepsy surgery, histopathology, outcome, survey
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10088847/30/Cross_Trends%20in%20pediatric%20epilepsy%20surgery%20in%20Europe%20between%202008%20and%202015.%20Country-,%20center-,%20and%20age-specific%20variation_AAM2.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10088847Test/
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