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, 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, LafreniA re, RG, Girard, SL, Mercimek-Mahmutoglu, S, Boelman, C, Rouleau, GA

مصطلحات موضوعية: CLTC, DHDDS, GABBR2, GABRB2, NTRK2, NUS1, RAB11, SNAP25, epileptic encephalopathy

Relation: 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, 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, LafreniA re, RG, Girard, SL, Mercimek-Mahmutoglu, S, Boelman, C and Rouleau, GA 2017 , 'High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies' , American journal of human genetics, vol. 101, no. 5 , pp. 664-685 , doi: https://doi.org/10.1016/j.ajhg.2017.09.008 .

الاتاحة: https://eprints.utas.edu.au/26782/
https://doi.org/10.1016/j.ajhg.2017.09.008

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

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

الاتاحة: https://figshare.com/articles/journal_contribution/High_Rate_of_Recurrent_De_Novo_Mutations_in_Developmental_and_Epileptic_Encephalopathies/22963247

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

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

الاتاحة: https://eprints.ncl.ac.uk/243549

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

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