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1دورية أكاديمية
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2دورية أكاديمية
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3دورية أكاديمية
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4دورية أكاديمية
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المؤلفون: O'Connor, E., Fourier, C., Ran, C., Sivakumar, P., Liesecke, F., Southgate, L., Harder, A.V.E., Vijfhuizen, L.S., Yip, J., Giffin, N., Silver, N., Ahmed, F., Hostettler, I.C., Davies, B., Cader, M.Z., Simpson, B.S., Sullivan, R., Efthymiou, S., Adebimpe, J., Quinn, O., Campbell, C., Cavalleri, G.L., Vikelis, M., Kelderman, T., Paemeleire, K., Kilbride, E., Grangeon, L., Lagrata, S., Danno, D., Trembath, R., Wood, N.W., Kockum, I., Winsvold, B.S., Steinberg, A., Sjostrand, C., Waldenlind, E., Vandrovcova, J., Houlden, H., Matharu, M., Belin, A.C.
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______202::4b6b6d40e2eeb54858b0251f2d47772e
https://hdl.handle.net/1887/3627406 -
6دورية أكاديمية
المؤلفون: Marques Jr., W., Sweeney, M.G., Wood, N.W.
المصدر: Brazilian Journal of Medical and Biological Research. October 2003 36(10)
مصطلحات موضوعية: Charcot-Marie-Tooth disease, CMT1A, PMP22 point mutation, 17p duplication, Hotspot
وصف الملف: text/html
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7دورية أكاديمية
المؤلفون: Lynch, J.M., Tate, S.K., Kinirons, P., Weale, M.E., Cavalleri, G.L., Depondt, C., Murphy, K., O’Rourke, D., Doherty, C.P., Shianna, K.V., Wood, N.W., Sander, J.W., Delanty, N., Goldstein, D.B., Sisodiya, S.M.
المصدر: In Epilepsy Research 2009 83(1):44-51
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المؤلفون: Chen, Z., Zhang, D., Reynolds, R.H., Gustavsson, E.K., García-Ruiz, S., D'Sa, K., Fairbrother-Browne, A., Vandrovcova, J., Noyce, A.J., Kaiyrzhanov, R., Middlehurst, B., Kia, D.A., Tan, M., Morris, H.R., Plun-Favreau, H., Holmans, P., Trabzuni, D., Bras, J., Quinn, J., Mok, K.Y., Kinghorn, K.J., Billingsley, K., Wood, N.W., Lewis, P., Schreglmann, S., Guerreiro, Rita, Lovering, R., R'Bibo, L., Manzoni, C., Rizig, M., Guelfi, S., Escott-Price, V., Chelban, V., Foltynie, T., Williams, N., Brice, A., Danjou, F., Lesage, S., Corvol, Jean-Christophe, Martinez, M., Schulte, C., Brockmann, K., Simón-Sánchez, J., Heutink, P., Rizzu, P., Sharma, M., Gasser, T., Nicolas, A., Cookson, M. R, Bandres-Ciga, S., Blauwendraat, Cornelis, Craig, David W, Faghri, F., Gibbs, J.R., Hernandez, D.G., Van Keuren-Jensen, K., Shulman, J.M., Leonard, H.L., Nalls, M.A., Robak, L., Lubbe, S., Finkbeiner, S., Mencacci, N.E., Lungu, C., Singleton, A. B., Scholz, S.W., Reed, X., Alcalay, Roy N, Gan-Or, Z., Rouleau, G.A., Krohn, L., van Hilten, J.J., Marinus, J., Adarmes-Gómez, A.D, Aguilar Barberà, Miquel, Alvarez, Ignacio, Alvarez, V., Barrero, F. J, Yarza, J.A.B., Bernal-Bernal, I., Blazquez, M., Bonilla-Toribio, Marta, Botía, J., Boungiorno, M.T., Buiza-Rueda, Dolores, Cámara, Ana, Carrillo, F., Carrión-Claro, M., Cerdan, D., Clarimón, Jordi, Compta, Yaroslau, Diez-Fairen, M., Dols Icardo, Oriol, Duarte, J., Duran, Raquel, Escamilla-Sevilla, F., Ezquerra, M., Feliz, C., Fernández, M., Fernández-Santiago, R., Garcia, C., García-Ruiz, P., Gómez-Garre, P., Heredia, M.J.G., Gonzalez-Aramburu, I., Pagola, A.G., Hoenicka, J., Infante, J., Jesús, S., Jimenez-Escrig, A., Kulisevsky, Jaime, Labrador-Espinosa, Miguel A, Lopez-Sendon, J.L., de Munain Arregui, A.L., Macias, D., Torres, I.M., Marín, J., Marti, M.J., Martínez-Castrillo, J.C., Méndez-del-Barrio, C., González, M.M., Mata, M., Mínguez, A., Mir, P., Rezola, E.M., Muñoz, E., Pagonabarraga Mora, Javier, Pastor, P., Errazquin, F.P., Periñán-Tocino, T., Ruiz-Martínez, J., Ruz, C., Rodriguez, A.S., Sierra, M., Suarez-Sanmartin, E., Tabernero, C., Tartari, J. P., Tejera-Parrado, C., Tolosa, E., Valldeoriola, F., Vargas-González, L., Vela, L., Vives, F., Zimprich, Alexander, Pihlstrom, L., Toft, M., Koks, S., Taba, P., Hassin-Baer, S., Hardy, J., Houlden, Henry, Gagliano Taliun, S. A., Ryten, M., Universitat Autònoma de Barcelona
المساهمون: Universidad de Cantabria, Lord Leonard and Lady Estelle Wolfson Foundation, Medical Research Council (UK), Dementia Research Institute (UK), Alzheimer Society, Alzheimer's Research UK, Wellcome Trust, Dolby Family Fund, National Institute for Health Research (UK), NIHR Biomedical Research Centre (UK), Agencia Estatal de Investigación (España), Fundación Séneca, Gobierno de la Región de Murcia
المصدر: Nature communications, vol 12, iss 1
Nature Communications 12, 2076 (2021)
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Nature communications
Nature Communications
Digital.CSIC. Repositorio Institucional del CSIC
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UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)مصطلحات موضوعية: 0301 basic medicine, Apolipoprotein E, Aging, Messenger, General Physics and Astronomy, Neurodegenerative, Alzheimer's Disease, Genome, Linkage Disequilibrium, Negative selection, 0302 clinical medicine, 2.1 Biological and endogenous factors, Aetiology, health care economics and organizations, Conserved Sequence, Phylogeny, Multidisciplinary, Brain, Neurodegenerative Diseases, Single Nucleotide, Alzheimer's disease, Phenotype, International Parkinson’s Disease Genomics Consortium, Neurological, Regression Analysis, Long Noncoding, DNA, Intergenic, RNA, Long Noncoding, Human, Biotechnology, Lineage (genetic), Science, 1.1 Normal biological development and functioning, Computational biology, Biology, Polymorphism, Single Nucleotide, Article, General Biochemistry, Genetics and Molecular Biology, Chromosomes, 03 medical and health sciences, Apolipoproteins E, Underpinning research, Alzheimer Disease, Genetic variation, Genetics, Acquired Cognitive Impairment, Humans, RNA, Messenger, Polymorphism, Gene, Whole genome sequencing, Intergenic, Pair 19, Genome, Human, Human Genome, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Molecular Sequence Annotation, General Chemistry, DNA, Introns, Brain Disorders, 030104 developmental biology, Gene Ontology, RNA, Dementia, Chromosomes, Human, Pair 19, 030217 neurology & neurosurgery
وصف الملف: application/pdf