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1دورية أكاديمية
المؤلفون: Servián-Morilla, E.Aff1, Aff2, Cabrera-Serrano, M.Aff1, Aff2, Johnson, K.Aff3, Aff4, Pandey, A., Ito, A., Rivas, E.Aff7, Aff2, Chamova, T., Muelas, N., Mongini, T., Nafissi, S., Claeys, K. G.Aff12, Aff13, Grewal, R. P., Takeuchi, M., Hao, H., Bönnemann, C., Lopes Abath Neto, O., Medne, L., Brandsema, J., Töpf, A., Taneva, A., Vilchez, J. J., Tournev, I.Aff8, Aff17, Haltiwanger, R. S., Takeuchi, H., Jafar-Nejad, H., Straub, V., Paradas, CarmenAff1, Aff2
المصدر: Acta Neuropathologica: Pathology and Mechanisms of Neurological Disease. 139(3):565-582
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2دورية أكاديمية
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3
المؤلفون: Pagnamenta, A. T., Kaiyrzhanov, R., Zou, Y. Q., Da'as, S. I., Maroofian, R., Donkervoort, S., Dominik, N., Lauffer, M., Ferla, M. P., Orioli, A., Giess, A., Tucci, A., Beetz, C., Sedghi, M., Ansari, B., Barresi, R., Basiri, K., Cortese, A., Elgar, G., Fernandez-Garcia, M. A., Yip, J., Foley, A. R., Gutowski, N., Jungbluth, H., Lassche, S., Lavin, T., Marcelis, C., Marks, P., Marini-Bettolo, C., Medne, L., Moslemi, Ali-Reza, Sarkozy, A., Reilly, M. M., Muntoni, F., Millan, F., Muraresku, C. C., Need, A. C., Nemeth, A. H., Neuhaus, S. B., Norwood, F., O'Donnell, M., O'Driscoll, M., Rankin, J., Yum, S. W., Zolkipli-Cunningham, Z., Brusius, I., Wunderlich, G., Karakaya, M., Wirth, B., Fakhro, K. A., Tajsharghi, H., Bonnemann, C. G., Taylor, J. C., Houlden, H.
المصدر: Brain : a journal of neurology. 144:584-600
مصطلحات موضوعية: Neurosciences, Neurovetenskaper, hereditary motor and sensory neuropathies, nerve conduction studies, EMG, genetics: neuropathy, whole-genome sequencing, matrix protein warp, zebrafish, mutations, model, genotype, sequence, genome, Neurosciences & Neurology
URL الوصول: https://gup.ub.gu.se/publication/305559
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4دورية أكاديمية
المؤلفون: Brownstein, CA, Beggs, AH, Homer, N, Merriman, B, Yu, TW, Flannery, KC, DeChene, ET, Towne, MC, Savage, SK, Price, EN, Holm, IA, Luquette, LJ, Lyon, E, Majzoub, J, Neupert, P, McCallie, D, Szolovits, P, Willard, HF, Mendelsohn, NJ, Temme, R, Finkel, RS, Yum, SW, Medne, L, Sunyaev, SR, Adzhubey, I, Cassa, CA, de Bakker, PIW, Duzkale, H, Dworzynski, P, Fairbrother, W, Francioli, L, Funke, BH, Giovanni, MA, Handsaker, RE, Lage, K, Lebo, MS, Lek, M, Leshchiner, I, MacArthur, DG, McLaughlin, HM, Murray, MF, Pers, TH, Polak, PP, Raychaudhuri, S, Rehm, HL, Soemedi, R, Stitziel, NO, Vestecka, S, Supper, J, Gugenmus, C, Klocke, B, Hahn, A, Schubach, M, Menzel, M, Biskup, S, Freisinger, P, Deng, M, Braun, M, Perner, S, Smith, RJH, Andorf, JL, Huang, J, Ryckman, K, Sheffield, VC, Stone, EM, Bair, T, Black-Ziegelbein, EA, Braun, TA, Darbro, B, DeLuca, AP, Kolbe, DL, Scheetz, TE, Shearer, AE, Sompallae, R, Wang, K, Bassuk, AG, Edens, E, Mathews, K, Moore, SA, Shchelochkov, OA, Trapane, P, Bossler, A, Campbell, CA, Heusel, JW, Kwitek, A, Maga, T, Panzer, K, Wassink, T, Van Daele, D, Azaiez, H, Booth, K, Meyer, N, Segal, MM, Williams, MS, Tromp, G, White, P, Corsmeier, D, Fitzgerald-Butt, S, Herman, G, Lamb-Thrush, D, McBride, KL, Newsom, D, Pierson, CR, Rakowsky, AT, Maver, A, Lovrecic, L, Palandacic, A, Peterlin, B, Torkamani, A, Wedell, A, Huss, M, Alexeyenko, A, Lindvall, JM, Magnusson, M, Nilsson, D, Stranneheim, H, Taylan, F, Gilissen, C, Hoischen, A, van Bon, B, Yntema, H, Nelen, M, Zhang, WD, Sager, J, Zhang, L, Blair, K, Kural, D, Cariaso, M, Lennon, GG, Javed, A, Agrawal, S, Ng, PC, Sandhu, KS, Krishna, S, Veeramachaneni, V, Isakov, O, Halperin, E, Friedman, E, Shomron, N, Glusman, G, Roach, JC, Caballero, J, Cox, HC, Mauldin, D, Ament, SA, Rowen, L, Richards, DR, San Lucas, FA, Gonzalez-Garay, ML, Caskey, CT, Bai, Y, Huang, Y, Fang, F, Zhang, Y, Wang, ZY, Barrera, J, Garcia-Lobo, JM, Gonzalez-Lamuno, D, Llorca, J, Rodriguez, MC, Varela, I, Reese, MG, De la Vega, FM, Kiruluta, E, Cargill, M, Hart, RK, Sorenson, JM, Lyon, GJ, Stevenson, DA, Bray, BE, Moore, BM, Eilbeck, K, Yandell, M, Zhao, HY, Hou, L, Chen, XW, Yan, XT, Chen, MJ, Li, C, Yang, C, Gunel, M, Li, PN, Kong, Y, Alexander, AC, Albertyn, ZI, Boycott, KM, Bulman, DE, Gordon, PMK, Innes, AM, Knoppers, BM, Majewski, J, Marshall, CR, Parboosingh, JS, Sawyer, SL, Samuels, ME, Schwartzentruber, J, Kohane, IS, Margulies, DM
المصدر: Genome biology. 15(3):R53
مصطلحات موضوعية: Medicin och hälsovetenskap
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5دورية أكاديمية
المؤلفون: Stewart, DR, Huang, A, Faravelli, F, Anderlid, BM, Medne, L, Ciprero, K, Kaur, M, Rossi, E, Tenconi, R, Nordenskjold, M, Gripp, KW, Nicholson, L, Meschino, WS, Capua, E, Quarrell, OWJ, Flint, J, Irons, M, Giampietro, PF, Schowalter, DB, Zaleski, CA, Malacarne, M, Zackai, EH, Spinner, NB, Krantz, ID
المصدر: American journal of medical genetics. Part A. 128A(4):340-351
مصطلحات موضوعية: Medicin och hälsovetenskap
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6دورية أكاديمية
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7دورية أكاديمية
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8دورية أكاديمية
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9دورية أكاديمية
المؤلفون: Gorokhova, S., Schessl, J., Zou, Y., Yang, M., Heydemann, P., Sufit, R., Meilleur, K., Donkervoort, S., Medne, L., Finkel, R., Bönnemann, C.
المصدر: In Neuromuscular Disorders October 2023 33 Supplement 1:S173-S174
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10
المؤلفون: Pagnamenta, AT, Kaiyrzhanov, R, Zou, Y, Da'as, SI, Maroofian, R, Donkervoort, S, Dominik, N, Lauffer, M, Ferla, MP, Orioli, A, Giess, A, Tucci, A, Beetz, C, Sedghi, M, Ansari, B, Barresi, R, Basiri, K, Cortese, A, Elgar, G, Fernandez-Garcia, MA, Yip, J, Foley, AR, Gutowski, N, Jungbluth, H, Lassche, S, Lavin, T, Marcelis, C, Marks, P, Marini-Bettolo, C, Medne, L, Moslemi, A-R, Sarkozy, A, Reilly, MM, Muntoni, F, Millan, F, Muraresku, CC, Need, AC, Nemeth, AH, Neuhaus, SB, Norwood, F, O'Donnell, M, O'Driscoll, M, Rankin, J, Yum, SW, Zolkipli-Cunningham, Z, Brusius, I, Wunderlich, G, Genomics England Research Consortium, Karakaya, M, Wirth, B, Fakhro, KA, Tajsharghi, H, Bönnemann, CG, Taylor, JC, Houlden, H
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::9ace190b5c0e052e8600958734973424
https://openaccess.sgul.ac.uk/id/eprint/112991/1/awaa420.pdf