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1Academic Journal
المؤلفون: Dias, K. R., Carlston, C. M., Blok, L. E. R., De Hayr, L., Nawaz, U., Evans, C. A., Bayrak-Toydemir, P., Htun, S., Zhu, Y., Ma, A., Lynch, S. A., Moorwood, C., Stals, K., Ellard, S., Bainbridge, M. N., Friedman, J., Pappas, J. G., Rabin, R., Nowak, C. B., Douglas, J., Wilson, T. E., Guillen Sacoto, M. J., Mullegama, S. V., Palculict, T. B., Kirk, E. P., Pinner, J. R., Edwards, M., Montanari, F., Graziano, C., Pippucci, T., Dingmann, B., Glass, I., Mefford, H. C., Shimoji, T., Suzuki, T., Yamakawa, K., Streff, H., Schaaf, C. P., Slavotinek, A. M., Voineagu, I., Carey, J. C., Buckley, M. F., Schenck, A., Harvey, R. J., Roscioli, T.
مصطلحات موضوعية: Brain/metabolism, Gene Expression Regulation, Humans, Intellectual Disability/genetics, Neurodevelopmental Disorders/genetics/metabolism, Protein Domains, Whole Exome Sequencing, Developmental delay, Intellectual disability, Protein hub, Zmynd8
Relation: https://linkinghub.elsevier.com/retrieve/pii/S1098-3600(22)00803-6; Genet Med. 2022 Sep;24(9):1952-1966. doi:10.1016/j.gim.2022.06.001. Epub 2022 Aug 1.; https://rde.dspace-express.com/handle/11287/622662; Genetics in medicine
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2Academic Journal
المؤلفون: Ramond, F., Dalgliesh, C., Grimmel, M., Wechsberg, O., Vetro, A., Guerrini, R., FitzPatrick, D., Poole, R. L., Lebrun, M., Bayat, A., Grasshoff, U., Bertrand, M., Witt, D., Turnpenny, P. D., Faundes, V., Santa María, L., Mendoza Fuentes, C., Mabe, P., Hussain, S. A., Mullegama, S. V., Torti, E., Oehl-Jaschkowitz, B., Salmon, L. B., Orenstein, N., Shahar, N. R., Hagari, O., Bazak, L., Hoffjan, S., Prada, C. E., Haack, T., Elliott, D. J.
مصطلحات موضوعية: Epilepsy, Infantile spasms, Intellectual disability, Molecular genetics, TRA2B, authors declare no conflicts of interest
Relation: https://linkinghub.elsevier.com/retrieve/pii/S1098-3600(22)01070-X; Genet Med. 2022 Dec 20;25(4):100003. doi:10.1016/j.gim.2022.100003.; Genetics in medicine; https://hdl.handle.net/11287/622798
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3Academic Journal
المؤلفون: Hodge, J C, Mitchell, E, Pillalamarri, V, Toler, T L, Bartel, F, Kearney, H M, Zou, Y S, Tan, W H, Hanscom, C, Kirmani, S, Hanson, R R, Skinner, S A, Rogers, R C, Everman, D B, Boyd, E, Tapp, C, Mullegama, S V, Keelean-Fuller, D, Powell, C M, Elsea, S H, Morton, C C, Gusella, J F, DuPont, B, Chaubey, A, Lin, A E, Talkowski, M E
المصدر: Hodge , J C , Mitchell , E , Pillalamarri , V , Toler , T L , Bartel , F , Kearney , H M , Zou , Y S , Tan , W H , Hanscom , C , Kirmani , S , Hanson , R R , Skinner , S A , Rogers , R C , Everman , D B , Boyd , E , Tapp , C , Mullegama , S V , Keelean-Fuller , D , Powell , C M , Elsea , S H , Morton , C C , Gusella , ....