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1دورية أكاديمية
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
العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S1098-3600Test(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/11287/622662Test; Genetics in medicine
الإتاحة: https://doi.org/10.1016/j.gim.2022.06.001Test
https://rde.dspace-express.com/handle/11287/622662Test -
2دورية أكاديمية
المؤلفون: Angelozzi, M., Karvande, A., Molin, A. N., Ritter, A. L., Leonard, J. M. M., Savatt, J. M., Douglass, K., Myers, S. M., Grippa, M., Tolchin, D., Zackai, E., Donoghue, S., Hurst, A. C. E., Descartes, M., Smith, K., Velasco, D., Schmanski, A., Crunk, A., Tokita, M. J., de Lange, I. M., van Gassen, K., Robinson, H., Guegan, K., Suri, M., Patel, C., Bournez, M., Faivre, L., Tran-Mau-Them, F., Baker, J., Fabie, N., Weaver, K., Shillington, A., Hopkin, R. J., Barge-Schaapveld, Dqcm, Ruivenkamp, C. A., Bökenkamp, R., Vergano, S., Seco Moro, M. N., Díaz de Bustamante, A., Misra, V. K., Kennelly, K., Rogers, C., Friedman, J., Wigby, K. M., Lenberg, J., Graziano, C., Ahrens-Nicklas, R. C., Lefebvre, V.
مصطلحات موضوعية: abnormalities, congenital, gene expression regulation, genetic variation, hereditary, neonatal diseases, competing interests
العلاقة: https://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=35232796Test; J Med Genet. 2022 Mar 1:jmedgenet-2021-108375. doi:10.1136/jmedgenet-2021-108375.; https://rde.dspace-express.com/handle/11287/622405Test; Journal of medical genetics
الإتاحة: https://doi.org/10.1136/jmedgenet-2021-108375Test
https://rde.dspace-express.com/handle/11287/622405Test