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1دورية أكاديمية
المؤلفون: Harel T., Yoon W. H., Garone C., Gu S., Coban-Akdemir Z., Eldomery M. K., Posey J. E., Jhangiani S. N., Rosenfeld J. A., Cho M. T., Fox S., Withers M., Brooks S. M., Chiang T., Duraine L., Erdin S., Yuan B., Shao Y., Moussallem E., Lamperti C., Donati M. A., Smith J. D., McLaughlin H. M., Eng C. M., Walkiewicz M., Xia F., Pippucci T., Magini P., Seri M., Zeviani M., Hirano M., Hunter J. V., Srour M., Zanigni S., Lewis R. A., Muzny D. M., Lotze T. E., Boerwinkle E., Gibbs R. A., Hickey S. E., Graham B. H., Yang Y., Buhas D., Martin D. M., Potocki L., Graziano C., Bellen H. J., Lupski J. R.
المساهمون: Harel, T., Yoon, W. H., Garone, C., Gu, S., Coban-Akdemir, Z., Eldomery, M. K., Posey, J. E., Jhangiani, S. N., Rosenfeld, J. A., Cho, M. T., Fox, S., Withers, M., Brooks, S. M., Chiang, T., Duraine, L., Erdin, S., Yuan, B., Shao, Y., Moussallem, E., Lamperti, C., Donati, M. A., Smith, J. D., Mclaughlin, H. M., Eng, C. M., Walkiewicz, M., Xia, F., Pippucci, T., Magini, P., Seri, M., Zeviani, M., Hirano, M., Hunter, J. V., Srour, M., Zanigni, S., Lewis, R. A., Muzny, D. M., Lotze, T. E., Boerwinkle, E., Gibbs, R. A., Hickey, S. E., Graham, B. H., Yang, Yang, Buhas, D., Martin, D. M., Potocki, L., Graziano, C., Bellen, H. J., Lupski, J. R.
مصطلحات موضوعية: ATAD3A, cardiomyopathy, CNV, de novo variant, dominant negative, mitochondrial dynamic, neuropathy, optic atrophy, whole-exome sequencing, ATPases Associated with Diverse Cellular Activitie, Adenosine Triphosphatase, Adult, Animal, Axon, Cardiomyopathie, Child, Preschool, DNA Copy Number Variation, Developmental Disabilitie, Drosophila melanogaster, Female, Fibroblast, Homozygote, Human, Infant, Newborn, Male, Membrane Protein, Mitochondria, Mitochondrial Protein
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27640307; info:eu-repo/semantics/altIdentifier/wos/WOS:000385333700004; volume:99; issue:4; firstpage:831; lastpage:845; numberofpages:15; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/3354189Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84991678519
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2دورية أكاديمية
المؤلفون: Hamdan, FF Hamdan, Fadi F., Gauthier, J Gauthier, Julie, Araki, Y Araki, Yoichi, Lin, DT Lin, Da-Ting, Yoshizawa, Y Yoshizawa, Yuhki, Higashi, K Higashi, Kyohei, Park, AR Park, A-Reum, Spiegelman, D Spiegelman, Dan, Dobrzeniecka, S Dobrzeniecka, Sylvia, Piton, A Piton, Amelie, Tomitori, H Tomitori, Hideyuki, Daoud, H Daoud, Hussein, Massicotte, C Massicotte, Christine, Henrion, E Henrion, Edouard, Diallo, O Diallo, Ousmane, Shekarabi, M Shekarabi, Masoud, Marineau, C Marineau, Claude, Shevell, M Shevell, Michael, Maranda, B Maranda, Bruno, Mitchell, G Mitchell, Grant, Nadeau, A Nadeau, Amelie, D'Anjou, G D'Anjou, Guy, Vanasse, M Vanasse, Michel, Srour, M Srour, Myriam, Lafreniere, RG Lafreniere, Ronald G., Drapeau, P Drapeau, Pierre, Lacaille, JC Lacaille, Jean Claude, Kim, E Kim, Eunjoon, Lee, JR Lee, Jae-Ran, Igarashi, K Igarashi, Kazuei, Huganir, RL Huganir, Richard L., Rouleau, GA Rouleau, Guy A., Michaud, JL Michaud, Jacques L.
