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المؤلفون: Harper, A. R., Goel, A., Grace, C., Thomson, K. L., Petersen, S. E., Xu, X., Waring, A., Ormondroyd, E., Kramer, C. M., C. Y., Ho, Neubauer, S., Kolm, P., Kwong, R., Dolman, S. F., Desvigne-Nickens, P., Dimarco, J. P., Geller, N., Kim, D. -Y., Zhang, C., Weintraub, W., Abraham, T., Anderson, L., Appelbaum, E., Autore, C., Berry, C., Biagini, E., Bradlow, W., Bucciarelli-Ducci, C., Chiribiri, A., Choudhury, L., Crean, A., Dawson, D., Desai, M. Y., Elstein, E., Flett, A., Friedrich, M., Heitner, S., Helms, A., Jacoby, D. L., Kim, H., Kim, B., Larose, E., Mahmod, M., Mahrholdt, H., Maron, M., Mccann, G., Michels, M., Mohiddin, S., Nagueh, S., Newby, D., Olivotto, I., Owens, A., Pierre-Mongeon, F., Prasad, S., Rimoldi, O., Salerno, M., Schulz-Menger, J., Sherrid, M., Swoboda, P., van Rossum, A., Weinsaft, J., White, J., Williamson, E., Tadros, R., Ware, J. S., Bezzina, C. R., Farrall, M., Watkins, H.
المساهمون: Cardiology, ACS - Heart failure & arrhythmias
المصدر: Nature genetics, 53(2), 135-142. Nature Publishing Group
مصطلحات موضوعية: LOCI, Genome-wide association study, Blood Pressure, Bioinformatics, DISEASE, SYSTOLIC HYPERTENSION, 0302 clinical medicine, Adolescent, Adult, Aged, Cardiac Myosins, Cardiomyopathy, Hypertrophic, Carrier Proteins, Case-Control Studies, Formins, Genetic Predisposition to Disease, Genome-Wide Association Study, Heterozygote, Humans, Middle Aged, Myosin Heavy Chains, Risk Factors, Sarcomeres, Young Adult, Polymorphism, Single Nucleotide, 11 Medical and Health Sciences, Genetics & Heredity, 0303 health sciences, Hypertrophic cardiomyopathy, Single Nucleotide, 3. Good health, GENOTYPE, cardiovascular system, Life Sciences & Biomedicine, Cardiomyopathy, macromolecular substances, Biology, AMERICAN-COLLEGE, 03 medical and health sciences, Heart disorder, Mendelian randomization, Genetics, medicine, Expressivity (genetics), cardiovascular diseases, Risk factor, GENOME-WIDE ASSOCIATION, Polymorphism, 030304 developmental biology, HCMR Investigators, Science & Technology, Genetic heterogeneity, Case-control study, 06 Biological Sciences, medicine.disease, Hypertrophic, DISCOVERY, 030217 neurology & neurosurgery, Developmental Biology
وصف الملف: application/pdf
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المؤلفون: Lal, D., May, P., Perez-Palma, E., Samocha, K. E., Kosmicki, J. A., Robinson, E. B., Moller, R. S., Krause, R., Nurnberg, P., Weckhuysen, S., De Jonghe, P., Guerrini, R., Niestroj, L. M., Du, J., Marini, C., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D. C., Depienne, C., Helbig, I., Hjalgrim, H., Hoffman-Zacharska, D., Jahn, J., Klein, K. M., Koeleman, B. P. C., Komarek, V., Leguern, E., Lehesjoki, A. -E., Lemke, J. R., Lerche, H., Linnankivi, T., Muhle, H., Pal, D. K., Palotie, A., Rosenow, F., Schubert-Bast, S., Selmer, K., Serratosa, J. M., Stephani, U., Sterbova, K., Striano, P., Suls, A., Talvik, T., Von Spiczak, S., Weber, Y. G., Zara, F., Ware, J. S., Kurki, M., Gormley, P., Tang, S., Wu, S., Biskup, S., Poduri, A., Neubauer, B. A., Helbig, K. L., Majithia, A. R., Daly, M. J.
المساهمون: EuroEPINOMICS-RES Consortium, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, University of Helsinki, Department of Medical and Clinical Genetics, Medicum, HUS Helsinki and Uusimaa Hospital District, Wellcome Trust
المصدر: Genome medicine
Genome Medicine, Vol 12, Iss 1, Pp 1-12 (2020)
Genome Medicine
Lal, D, May, P, Perez-Palma, E, Samocha, K E, Kosmicki, J A, Robinson, E B, Møller, R S, Krause, R, Nürnberg, P, Weckhuysen, S, De Jonghe, P, Guerrini, R, Niestroj, L M, Du, J, Marini, C, Ware, J S, Kurki, M, Gormley, P, Tang, S, Wu, S, Biskup, S, Poduri, A, Neubauer, B A, Koeleman, B P C, Helbig, K L, Weber, Y G, Helbig, I, Majithia, A R, Palotie, A, Daly, M J & EuroEPINOMICS RES Consortium 2020, ' Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders ', Genome Medicine, vol. 12, 28 . https://doi.org/10.1186/s13073-020-00725-6مصطلحات موضوعية: Candidate gene, lcsh:QH426-470, Developmental Disabilities, Mutation, Missense, Sequence Homology, lcsh:Medicine, ORTHOLOGS, Computational biology, Conservation, Gene family, Missense variants, Neurodevelopmental disorders, Paralogs, Biology, 03 medical and health sciences, MULTIPLE SEQUENCE ALIGNMENT, PHYLOGENETIC TREES, Genetics, Missense mutation, Ensembl, Molecular Biology, Gene, Genetics (clinical), Phylogeny, 030304 developmental biology, 0303 health sciences, 0604 Genetics, Phylogenetic tree, Research, 030305 genetics & heredity, lcsh:R, 1184 Genetics, developmental biology, physiology, 1103 Clinical Sciences, EuroEPINOMICS-RES Consortium, Human genetics, lcsh:Genetics, Genetic Loci, DE-NOVO MUTATIONS, Multigene Family, Molecular Medicine, Human medicine, Orthologous Gene, Genome-Wide Association Study
وصف الملف: application/pdf
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المؤلفون: Whiffin, N. (Nicola), Karczewski, K. J. (Konrad J.), Zhang, X. (Xiaolei), Chothani, S. (Sonia), Smith, M. J. (Miriam J.), Evans, D. G. (D. Gareth), Roberts, A. M. (Angharad M.), Quaife, N. M. (Nicholas M.), Schafer, S. (Sebastian), Rackham, O. (Owen), Alfoldi, J. (Jessica), O'Donnell-Luria, A. H. (Anne H.), Francioli, L. C. (Laurent C.), Cook, S. A. (Stuart A.), Barton, P. J. (Paul J. R.), MacArthur, D. G. (Daniel G.), Ware, J. S. (James S.)
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2423::c9e9a02dcd878b68b265907966aa6943
http://urn.fi/urn:nbn:fi-fe2020091769963 -
8دورية أكاديمية
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9دورية أكاديمية
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10دورية أكاديمية
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