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1دورية أكاديمية
المؤلفون: Gautier, O, Blum, JA, Maksymetz, J, Chen, D, Schweingruber, C, Mei, I, Hermann, A, Hackos, DH, Hedlund, E, Ravits, J, Gitler, AD
المصدر: Neuron. 111(23):3739-3741
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Lee, T, Li, YR, Ingre, C, Weber, M, Grehl, T, Gredal, O, de Carvalho, M, Meyer, T, Tysnes, OB, Auburger, G, Gispert, S, Bonini, NM, Andersen, PM, Gitler, AD
المصدر: Human molecular genetics. 20(9):1697-1700
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية أكاديمية
المؤلفون: Couthouis, J, Hart, MP, Shorter, J, DeJesus-Hernandez, M, Erion, R, Oristano, R, Liu, AX, Ramos, D, Jethava, N, Hosangadi, D, Epstein, J, Chiang, A, Diaz, Z, Nakaya, T, Ibrahim, F, Kim, HJ, Solski, JA, Williams, KL, Mojsilovic-Petrovic, J, Ingre, C, Boylan, K, Graff-Radford, NR, Dickson, DW, Clay-Falcone, D, Elman, L, McCluskey, L, Greene, R, Kalb, RG, Lee, VMY, Trojanowski, JQ, Ludolph, A, Robberecht, W, Andersen, PM, Nicholson, GA, Blair, IP, King, OD, Bonini, NM, Van Deerlin, V, Rademakers, R, Mourelatos, Z, Gitler, AD
المصدر: Proceedings of the National Academy of Sciences of the United States of America. 108(52):20881-20890
مصطلحات موضوعية: Medicin och hälsovetenskap
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4دورية أكاديمية
المؤلفون: Finkbeiner, Steven, Kim, H-J, Raphael, AR, LaDow, ES, McGurk, L, Weber, RA, Trojanowski, JQ, Lee, VM-Y, Gitler, AD, Bonini, NM
URL الوصول: https://escholarship.org/uc/item/7gr7n6sv
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المؤلفون: Cirulli, Et, Lasseigne, Bn, Petrovski, S, Sapp, Pc, Dion, Pa, Leblond, Cs, Couthouis, J, Yf, Lu, Wang, Q, Krueger, Bj, Ren, Z, Keebler, J, Han, Y, Levy, Se, Boone, Be, Wimbish, Jr, Waite, Ll, Jones, Al, Carulli, Jp, Day Williams, Ag, Staropoli, Jf, Xin, Ww, Chesi, A, Raphael, Ar, McKenna Yasek, D, Cady, J, Vianney de Jong, Jm, Kenna, Kp, Smith, Bn, Topp, S, Miller, J, Gkazi, A, Al Chalabi, A, van den Berg, Lh, Veldink, J, Silani, V, Ticozzi, N, Shaw, Ce, Baloh, Rh, Appel, S, Simpson, E, Lagier Tourenne, C, Pulst, Sm, Gibson, S, Trojanowski, Jq, Elman, L, Mccluskey, L, Grossman, M, Shneider, Na, Chung, Wk, Ravits, Jm, Glass, Jd, Sims, Kb, Van Deerlin, Vm, Maniatis, T, Hayes, Sd, Ordureau, A, Swarup, S, Landers, J, Baas, F, Allen, As, Bedlack, Rs, Harper, Jw, Gitler, Ad, Rouleau, Ga, Brown, R, Harms, Mb, Cooper, Gm, Harris, T, Myers, Rm, Goldstein, Db, Soraru', Gianni, Sequencing Consortium, Fals
المساهمون: Other departments, ANS - Amsterdam Neuroscience, Genome Analysis, Human Genetics
المصدر: Science, 347(6229), 1436-1441. American Association for the Advancement of Science
مصطلحات موضوعية: Adult, Male, Risk, Adolescent, Sequence analysis, Cell Cycle Proteins, Protein Serine-Threonine Kinases, Biology, Bioinformatics, Young Adult, TANK-binding kinase 1, Transcription Factor TFIIIA, Sequestosome-1 Protein, Autophagy, medicine, Humans, Exome, Genetic Predisposition to Disease, Amyotrophic lateral sclerosis, Gene, Genetic Association Studies, Exome sequencing, Adaptor Proteins, Signal Transducing, Aged, Optineurin, Aged, 80 and over, Genetics, Multidisciplinary, Amyotrophic Lateral Sclerosis, Membrane Transport Proteins, Sequence Analysis, DNA, Middle Aged, medicine.disease, Genes, Female, Protein Binding
وصف الملف: text
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea6005d4ebc97b8f387178b3a7dbb1fe
https://doi.org/10.1126/science.aaa3650 -
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المؤلفون: Akimoto, C, Volk, AE, van Blitterswijk, M, Van den Broeck, M, Leblond, CS, Lumbroso, S, Camu, W, Neitzel, B, Onodera, O, van Rheenen, W, Pinto, S, Weber, M, Smith, B, Proven, M, Talbot, K, Keagle, P, Chesi, A, Ratti, A, van der Zee, J, Alstermark, H, Birve, A, Calini, D, Nordin, A, Tradowsky, DC, Just, W, Daoud, H, Angerbauer, S, DeJesus-Hernandez, M, Konno, T, Lloyd-Jani, A, de Carvalho, M, Mouzat, K, Landers, JE, Veldink, JH, Silani, V, Gitler, AD, Shaw, CE, Rouleau, GA, van den Berg, LH, Van Broeckhoven, C, Rademakers, R, Andersen, PM, Kubisch, C
المساهمون: Repositório da Universidade de Lisboa
المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Journal of Medical Genetics
Journal of medical geneticsمصطلحات موضوعية: Male, medicine.medical_specialty, C9orf72, Internal medicine, Genotype, Motor neurone disease, Methods, Genetics, medicine, Humans, In patient, Genetic Testing, Molecular genetics, Genotyping, Genetics (clinical), Reliability (statistics), Genetic testing, Southern blot, C9orf72 Protein, medicine.diagnostic_test, business.industry, Amyotrophic Lateral Sclerosis, Proteins, Reproducibility of Results, Gold standard (test), Clinical Laboratory Services, Neurology, Frontotemporal Dementia, Female, Human medicine, business
وصف الملف: application/pdf; pdf
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7دورية أكاديمية
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8دورية أكاديمية
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9دورية أكاديمية
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10دورية أكاديمية
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