المؤلفون: Goemans, Nathalie, Mercuri, Eugenio, Belousova, Elena, Komaki, Hirofumi, Dubrovsky, Alberto, McDonald, Craig M., Kraus, John E., Lourbakos, Afrodite, Lin, Zhengning, Campion, Giles, Wang, Susanne X., Campbell, Craig, Araujo A, Bertini E, Born P, Cances C, Chabrol B, Chae JH, Colomer Oferil J, Comi GP, Cuisset JM, D'Anjou G, Desguerre I, Erazo Torricelli R, Escobar R, Feder D, Ferlini A, Giugliani R, Henricson E, Herczegfalvi A, Jong YJ, Kimura S, Kirschner JB, Kleinsteuber K, Kostera-Pruszczyk A, Kudr M, Mueller-Felber W, Niks EH, Ogata K, Palermo C, Pane M, Pascual I, Pereon Y, Raskin S, Rasmussen M, Reed U, Schara U, Selby K, Sobreira C, Takeshima Y, Vilchez Padilla JJ, Vita G, Vondracek P, Wiegand G, Wilichowski E.

المساهمون: Goemans, Nathalie, Mercuri, Eugenio, Belousova, Elena, Komaki, Hirofumi, Dubrovsky, Alberto, McDonald, Craig M., Kraus, John E., Lourbakos, Afrodite, Lin, Zhengning, Campion, Gile, Wang, Susanne X., Campbell, Craig, Araujo, A, Bertini, E, Born, P, Cances, C, Chabrol, B, Chae, JH, Colomer Oferil, J, Comi, GP, Cuisset, JM, D'Anjou, G, Desguerre, I, Erazo Torricelli, R, Escobar, R, Feder, D, Ferlini, A, Giugliani, R, Henricson, E, Herczegfalvi, A, Jong, YJ, Kimura, S, Kirschner, JB, Kleinsteuber, K, Kostera-Pruszczyk, A, Kudr, M, Mueller-Felber, W, Niks, EH, Ogata, K, Palermo, C, Pane, M, Pascual, I, Pereon, Y, Raskin, S, Rasmussen, M, Reed, U, Schara, U, Selby, K, Sobreira, C, Takeshima, Y, Vilchez Padilla, JJ, Vita, G, Vondracek, P, Wiegand, G, Wilichowski, E.

مصطلحات موضوعية: 6-minute walking distance, antisense oligonucleotide, drisapersen, Duchenne muscular dystrophy, dystrophin, exon skipping, Pediatrics, Perinatology and Child Health, Neurology, Neurology (clinical), Genetics (clinical)

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29203355; info:eu-repo/semantics/altIdentifier/wos/WOS:000427210600002; volume:28; issue:1; firstpage:4; lastpage:15; numberofpages:12; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/11570/3166569Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85035316347; https://www.nmd-journal.com/article/S0960-8966Test(17)30200-6/fulltext

الإتاحة: https://doi.org/10.1016/j.nmd.2017.10.004Test
http://hdl.handle.net/11570/3166569Test
https://www.nmd-journal.com/article/S0960-8966Test(17)30200-6/fulltext

المؤلفون: Tétreault, M., Duquette, A., Thiffault, I., Bherer, C., Jarry, J., Loisel, L., Banwell, B., D'Anjou, G., Mathieu, J., Robitaille, Y., Vanasse, M., Brais, B.

مصطلحات موضوعية: Article

وصف الملف: text/html

العلاقة: http://brain.oxfordjournals.org/cgi/content/short/awl146v1Test; http://dx.doi.org/10.1093/brain/awl146Test

الإتاحة: https://doi.org/10.1093/brain/awl146Test
http://brain.oxfordjournals.org/cgi/content/short/awl146v1Test

المؤلفون: Hamdan, FF, Myers, CT, Cossette, P, Lemay, P, Spiegelman, D, Laporte, AD, Nassif, C, Diallo, O, Monlong, J, Cadieux-Dion, M, Dobrzeniecka, S, Meloche, C, Retterer, K, Cho, MT, Rosenfeld, JA, Bi, W, Massicotte, C, Miguet, M, Brunga, L, Regan, BM, Mo, K, Tam, C, Schneider, A, Hollingsworth, G, FitzPatrick, DR, Donaldson, A, Canham, N, Blair, E, Kerr, B, Fry, AE, Thomas, RH, Shelagh, J, Hurst, JA, Brittain, H, Blyth, M, Lebel, RR, Gerkes, EH, Davis-Keppen, L, Stein, Q, Chung, WK, Dorison, SJ, Benke, PJ, Fassi, E, Corsten-Janssen, N, Kamsteeg, EJ, Mau-Them, FT, Bruel, AL, Verloes, A, A unap, K, Wojcik, MH, Albert, DVF, Venkateswaran, S, Ware, T, Dean Jones, Liu, YC, Mohammad, SS, Bizargity, P, Bacino, CA, Leuzzi, V, Martinelli, S, Dallapiccola, B, Tartaglia, M, Blumkin, L, Wierenga, KJ, Purcarin, G, O'Byrne, JJ, Stockler, S, Lehman, A, Keren, B, Nougues, MC, Mignot, C, Auvin, S, Nava, C, Hiatt, SM, Bebin, M, Shao, Y, Scaglia, F, Lalani, SR, Frye, RE, Jarjour, IT, Jacques, S, Boucher, RM, Riou, E, Srour, M, Carmant, L, Lortie, A, Major, P, Diadori, P, Dubeau, F, D'Anjou, G, Bourque, G, Berkovic, SF, Sadleir, LG, Campeau, PM, Kibar, Z, LafreniA re, RG, Girard, SL, Mercimek-Mahmutoglu, S, Boelman, C, Rouleau, GA

مصطلحات موضوعية: Neurology and neuromuscular diseases, CLTC, DHDDS, GABBR2, GABRB2, NTRK2, NUS1, RAB11, SNAP25, epileptic encephalopathy

العلاقة: 102.100.100/563406; https://figshare.com/articles/journal_contribution/High_Rate_of_Recurrent_De_Novo_Mutations_in_Developmental_and_Epileptic_Encephalopathies/22963247Test

الإتاحة: https://figshare.com/articles/journal_contribution/High_Rate_of_Recurrent_De_Novo_Mutations_in_Developmental_and_Epileptic_Encephalopathies/22963247Test

المؤلفون: Hamdan, F.F., Myers, C.T., Cossette, P., Lemay, P., Spiegelman, D., Laporte, A.D., Nassif, C., Diallo, O., Monlong, J., Cadieux-Dion, M., Dobrzeniecka, S., Meloche, C., Retterer, K., Cho, M.T., Rosenfeld, J.A., Bi, W., Massicotte, C., Miguet, M., Brunga, L., Regan, B.M., Mo, K., Tam, C., Schneider, A., Hollingsworth, G., FitzPatrick, D.R., Donaldson, A., Canham, N., Blair, E., Kerr, B., Fry, A.E., Thomas, R.H., Shelagh, J., Hurst, J.A., Brittain, H., Blyth, M., Lebel, R.R., Gerkes, E.H., Davis-Keppen, L., Stein, Q., Chung, W.K., Dorison, S.J., Benke, P.J., Fassi, E., Corsten-Janssen, N., Kamsteeg, E.J., Mau-Them, F.T., Bruel, A.L., Verloes, A., Ounap, K., Wojcik, M.H., Albert, D.V.F., Venkateswaran, S., Ware, T., Jones, D., Liu, Y.C., Mohammad, S.S., Bizargity, P., Bacino, C.A., Leuzzi, V., Martinelli, S., Dallapiccola, B., Tartaglia, M., Blumkin, L., Wierenga, K.J., Purcarin, G., O'Byrne, J.J., Stockler, S., Lehman, A., Keren, B., Nougues, M.C., Mignot, C., Auvin, S., Nava, C., Hiatt, S.M., Bebin, M., Shao, Y., Scaglia, F., Lalani, S.R., Frye, R.E., Jarjour, I.T., Jacques, S., Boucher, R.M., Riou, E., Srour, M., Carmant, L., Lortie, A., Major, P., Diadori, P., Dubeau, F., D'Anjou, G., Bourque, G., Berkovic, S.F., Sadleir, L.G., Campeau, P.M., Kibar, Z., Lafreniere, R.G., Girard, S.L., Mercimek-Mahmutoglu, S., Boelman, C., Rouleau, G.A.

المصدر: American Journal of Human Genetics, 101, 5, pp. 664-685

مصطلحات موضوعية: Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: http://hdl.handle.net/2066/182558Test; https://doi.org/10.1016/j.ajhg.2017.09.008Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.09.008Test
http://hdl.handle.net/2066/182558Test

المؤلفون: Hamdan, FF Hamdan, Fadi F., Gauthier, J Gauthier, Julie, Araki, Y Araki, Yoichi, Lin, DT Lin, Da-Ting, Yoshizawa, Y Yoshizawa, Yuhki, Higashi, K Higashi, Kyohei, Park, AR Park, A-Reum, Spiegelman, D Spiegelman, Dan, Dobrzeniecka, S Dobrzeniecka, Sylvia, Piton, A Piton, Amelie, Tomitori, H Tomitori, Hideyuki, Daoud, H Daoud, Hussein, Massicotte, C Massicotte, Christine, Henrion, E Henrion, Edouard, Diallo, O Diallo, Ousmane, Shekarabi, M Shekarabi, Masoud, Marineau, C Marineau, Claude, Shevell, M Shevell, Michael, Maranda, B Maranda, Bruno, Mitchell, G Mitchell, Grant, Nadeau, A Nadeau, Amelie, D'Anjou, G D'Anjou, Guy, Vanasse, M Vanasse, Michel, Srour, M Srour, Myriam, Lafreniere, RG Lafreniere, Ronald G., Drapeau, P Drapeau, Pierre, Lacaille, JC Lacaille, Jean Claude, Kim, E Kim, Eunjoon, Lee, JR Lee, Jae-Ran, Igarashi, K Igarashi, Kazuei, Huganir, RL Huganir, Richard L., Rouleau, GA Rouleau, Guy A., Michaud, JL Michaud, Jacques L.

الإتاحة: https://doi.org/10.1016/j.ajhg.2011.02.001Test

المؤلفون: Fung Kee Fung, Michael, Potvin, Kenneth A., Temple, Lora, Jolly, Elaine E., d’Anjou, G.

المصدر: Journal SOGC ; volume 18, issue 1, page 45-54 ; ISSN 0849-5831

الإتاحة: https://doi.org/10.1016/s0849-5831Test(16)30246-4
https://api.elsevier.com/content/article/PII:S0849583116302464?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0849583116302464?httpAccept=text/plainTest

المؤلفون: Tremblay ME, Closon A, D'Anjou G, Bussières JF

المصدر: Annals of Pharmacotherapy; Jul/Aug2010, Vol. 44 Issue 7/8, p1330-1333, 4p

المؤلفون: Mercer, B., Drouin, J., Jolly, E., d'Anjou, G.

المصدر: American Journal of Obstetrics and Gynecology ; volume 159, issue 1, page 127-128 ; ISSN 0002-9378

مصطلحات موضوعية: Obstetrics and Gynecology

الإتاحة: https://doi.org/10.1016/0002-9378Test(88)90507-8
https://api.elsevier.com/content/article/PII:0002937888905078?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:0002937888905078?httpAccept=text/plainTest

المؤلفون: Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL

المصدر: American Journal of Human Genetics

وصف الملف: application/pdf

الإتاحة: https://eprint.ncl.ac.uk/fulltext.aspx?url=243549/741EC698-6812-495B-9CE8-E0DBB1CB58A9.pdf&pub_id=243549Test