المؤلفون: Hiatt, S.M., Trajkova, S., Sebastiano, M.R., Partridge, E.C., Abidi, F.E., Anderson, A., Ansar, M., Antonarakis, S.E., Azadi, A., Bachmann-Gagescu, R., Bartuli, A., Benech, C., Berkowitz, J.L., Betti, M.J., Brusco, A., Cannon, A., Caron, G., Chen, Y., Cochran, M.E., Coleman, T.F., Crenshaw, M.M., Cuisset, L., Curry, C.J., Darvish, H., Demirdas, S., Descartes, M., Douglas, J., Dyment, D.A., Elloumi, H.Z., Ermondi, G., Faoucher, M., Farrow, E.G., Felker, S.A., Fisher, H., Hurst, ACE, Joset, P., Kelly, M.A., Kmoch, S., Leadem, B.R., Lyons, M.J., Macchiaiolo, M., Magner, M., Mandrile, G., Mattioli, F., McEown, M., Meadows, S.K., Medne, L., Meeks, NJL, Montgomery, S., Napier, M.P., Natowicz, M., Newberry, K.M., Niceta, M., Noskova, L., Nowak, C.B., Noyes, A.G., Osmond, M., Prijoles, E.J., Pugh, J., Pullano, V., Quélin, C., Rahimi-Aliabadi, S., Rauch, A., Redon, S., Reymond, A., Schwager, C.R., Sellars, E.A., Scheuerle, A.E., Shukarova-Angelovska, E., Skraban, C., Stolerman, E., Sullivan, B.R., Tartaglia, M., Thiffault, I., Uguen, K., Umaña, L.A., van Bever, Y., van der Crabben, S.N., van Slegtenhorst, M.A., Waisfisz, Q., Washington, C., Rodan, L.H., Myers, R.M., Cooper, G.M.

المصدر: American journal of human genetics, vol. 110, no. 2, pp. 215-227

مصطلحات موضوعية: Humans, Male, Female, Neurodevelopmental Disorders/genetics, Intellectual Disability/genetics, Phenotype, Gene Expression Regulation, Face, Nervous System Malformations, Nuclear Proteins/genetics, Histone Demethylases/genetics, X-linked intellectual disability, ZMYM3, chromatin modifiers, neurodevelopmental disorder, transcriptional coregulators

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36586412; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; https://serval.unil.ch/notice/serval:BIB_A025F20DEEB6Test; urn:issn:0002-9297

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.12.007Test
https://serval.unil.ch/notice/serval:BIB_A025F20DEEB6Test

المؤلفون: Cospain, A., Rivera-Barahona, A., Dumontet, E., Gener, B., Bailleul-Forestier, I., Meyts, I., Jouret, G., Isidor, B., Brewer, C., Wuyts, W., Moens, L., Delafontaine, S., Keung Lam, W. W., Van Den Bogaert, K., Boogaerts, A., Scalais, E., Besnard, T., Cogne, B., Guissard, C., Rollier, P., Carre, W., Bouvet, R., Tarte, K., Gómez-Carmona, R., Lapunzina, P., Odent, S., Faoucher, M., Dubourg, C., Ruiz-Pérez, V. L., Devriendt, K., Pasquier, L., Pérez-Jurado, L. A.

مصطلحات موضوعية: Humans, Scalp/abnormalities/metabolism, Autism Spectrum Disorder/genetics, HEK293 Cells, Transcription Factor AP-1/genetics, Exons/genetics, Ectodermal Dysplasia/genetics, Neurodevelopmental Disorders/genetics, RNA, Messenger, Fos-Related Antigen-2/genetics, AP-1 complex, Adams-Oliver syndrome, Aplasia cutis congenita of scalp, Enamel hypoplasia, FOSL2, qGenomics Laboratories

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S1098-3600Test(22)00937-6; Genet Med. 2022 Dec;24(12):2475-2486. doi:10.1016/j.gim.2022.09.002. Epub 2022 Oct 4.; https://rde.dspace-express.com/handle/11287/622737Test; Genetics in medicine

الإتاحة: https://doi.org/10.1016/j.gim.2022.09.002Test
https://rde.dspace-express.com/handle/11287/622737Test