المؤلفون: Dobrzeniecka, S., Nkongolo, K. K., Michael, P., Wyss, S., Mehes, M.

المصدر: Silvae Genetica ; volume 58, issue 1-6, page 168-172 ; ISSN 2509-8934

الإتاحة: https://doi.org/10.1515/sg-2009-0022Test
https://content.sciendo.com/view/journals/sg/58/1-6/article-p168.xmlTest

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, F F, Daoud, H, Patry, L, Dionne‐Laporte, A, Spiegelman, D, Dobrzeniecka, S, Rouleau, G A, Michaud, J L

المصدر: Clinical Genetics ; volume 83, issue 2, page 198-200 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/j.1399-0004.2012.01890.xTest

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: Nkongolo, K. K., Vaillancourt, A., Dobrzeniecka, S., Mehes, M., Beckett, P.

المصدر: Bulletin of Environmental Contamination and Toxicology ; volume 80, issue 2, page 107-111 ; ISSN 0007-4861 1432-0800

مصطلحات موضوعية: Health, Toxicology and Mutagenesis, Pollution, Toxicology, General Medicine

الإتاحة: https://doi.org/10.1007/s00128-007-9325-1Test

المؤلفون: Nkongolo, K., Vaillancourt, A., Dobrzeniecka, S., Mehes, M., Beckett, P.

المصدر: Bulletin of Environmental Contamination & Toxicology; Feb2008, Vol. 80 Issue 2, p107-111, 5p, 3 Charts, 1 Map

مصطلحات موضوعية: METALS & the environment, SOIL testing, BLACK spruce, IRON smelting, NICKEL & the environment, ARSENIC, CADMIUM & the environment

مصطلحات جغرافية: GREATER Sudbury (Ont.), ONTARIO, CANADA

المؤلفون: Hamdan, F F, Daoud, H, Patry, L, Dionne‐Laporte, A, Spiegelman, D, Dobrzeniecka, S, Rouleau, G A, Michaud, J L

المصدر: Clinical Genetics; Feb2013, Vol. 83 Issue 2, p198-200, 3p, 1 Chart, 1 Graph

مصطلحات موضوعية: LETTERS to the editor, MENTAL illness genetics, GENETIC mutation

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