المؤلفون: Mucha, BE, Banka, S, Ajeawung, NF, Molidperee, S, Chen, GG, Koenig, MK, Adejumo, RB, Till, M, Harbord, M, Perrier, R, Lemyre, E, Boucher, RM, Skotko, BG, Campeau, PM

المصدر: Mucha , BE , Banka , S , Ajeawung , NF , Molidperee , S , Chen , GG , Koenig , MK , Adejumo , RB , Till , M , Harbord , M , Perrier , R , Lemyre , E , Boucher , RM , Skotko , BG & Campeau , PM 2019 , ' Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. ' , Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-018-0413-xTest

الإتاحة: https://doi.org/10.1038/s41436-018-0413-xTest
https://research.manchester.ac.uk/en/publications/3cc05b65-ee72-4e03-9b5b-eceb6b31b163Test

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: Feldhammer, M, Durand, S, Mrazova, L, Boucher, RM, Laframboise, R, Steinfeld, R, Wraith, JE, Michelakakis, H, Diggelen, Otto, Hrebicek, M, Kmoch, S, Pshezhetsky, AV

المصدر: Feldhammer , M , Durand , S , Mrazova , L , Boucher , RM , Laframboise , R , Steinfeld , R , Wraith , JE , Michelakakis , H , Diggelen , O , Hrebicek , M , Kmoch , S & Pshezhetsky , AV 2009 , ' Sanfilippo Syndrome Type C: Mutation Spectrum in the Heparan Sulfate Acetyl-CoA: alpha-Glucosaminide N-Acetyltransferase (HGSNAT) Gene ' , Human Mutation , vol. 30 , no. 6 , pp. 918-925 . https://doi.org/10.1002/humu.20986Test

الإتاحة: https://doi.org/10.1002/humu.20986Test
https://pure.eur.nl/en/publications/56e2d8a7-106b-401f-9f9d-57fbcf9d5f97Test
http://hdl.handle.net/1765/26921Test

المؤلفون: De Wals P, Deceuninck G, Toth E, Boulianne N, Brunet D, Boucher RM, Landry M, De Serres G, De Wals, Philippe, Deceuninck, Geneviève, Toth, Eveline, Boulianne, Nicole, Brunet, Denis, Boucher, Renée-Myriam, Landry, Monique, De Serres, Gaston

المصدر: JAMA: Journal of the American Medical Association; 7/11/2012, Vol. 308 Issue 2, p175-181, 7p

المؤلفون: Jones SC, Sorbello A, Boucher RM, Jones, S Christopher, Sorbello, Alfred, Boucher, Robert M

المصدر: Drug Safety; 2011, Vol. 34 Issue 10, p839-847, 9p

المؤلفون: Boucher RM (AUTHOR), Gilbert-McClain L (AUTHOR), Chowdhury B (AUTHOR), Boucher, Robert M (AUTHOR), Gilbert-McClain, Lydia (AUTHOR), Chowdhury, Badrul (AUTHOR)

المصدر: New England Journal of Medicine. 6/26/2008, Vol. 358 Issue 26, p2838-2840. 3p.

URL: 32765970

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