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1دورية أكاديمية
المؤلفون: Asif, M, Kaygusuz, E, Shinawi, M, Nickelsen, A, Hsieh, T-C, Wagle, P, Budde, BS, Hochscherf, J, Abdullah, U, Höning, S, Nienberg, C, Lindenblatt, D, Noegel, AA, Altmüller, J, Thiele, H, Motameny, S, Fleischer, N, Segal, I, Pais, L, Tinschert, S, Samra, NN, Savatt, JM, Rudy, NL, De Luca, C, Italian Undiagnosed Diseases Network, Paola Fortugno, White, SM, Krawitz, P, Hurst, ACE, Niefind, K, Jose, J, Brancati, F, Nürnberg, P, Hussain, MS
العلاقة: pii: S2666-2477(22)00027-6; Asif, M., Kaygusuz, E., Shinawi, M., Nickelsen, A., Hsieh, T. -C., Wagle, P., Budde, B. S., Hochscherf, J., Abdullah, U., Höning, S., Nienberg, C., Lindenblatt, D., Noegel, A. A., Altmüller, J., Thiele, H., Motameny, S., Fleischer, N., Segal, I., Pais, L. ,. Hussain, M. S. (2022). De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway. HGG Adv, 3 (3), pp.100111-. https://doi.org/10.1016/j.xhgg.2022.100111Test.; http://hdl.handle.net/11343/310662Test
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2دورية أكاديمية
المؤلفون: Banka, S, Bennington, A, Rijckmans, E, Clemente, G, Ansor, N, Sito, H, Prasad, P, Anyane-Yeboa, K, Badalato, L, Dimitrov, B, Jansen, A, Krantz, I, Rieubland, C, Rudy, NL, Sanz, J, Stouffs, K, Malliri, A, Kazanietz, MG
المصدر: Banka , S , Bennington , A , Rijckmans , E , Clemente , G , Ansor , N , Sito , H , Prasad , P , Anyane-Yeboa , K , Badalato , L , Dimitrov , B , Jansen , A , Krantz , I , Rieubland , C , Rudy , NL , Sanz , J , Stouffs , K , Malliri , A & Kazanietz , MG 2023 , ' C08.1 Activating RAC1 variants in the switch II region cause a novel developmental syndrome and alter neuronal morphology that can be rescued by targeting CYFIP ....
الإتاحة: https://doi.org/10.1038/s41431-023-01337-5Test
https://research.manchester.ac.uk/en/publications/6ad09f6a-da37-4371-8b65-04d87d095a00Test
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:001050507000053&DestLinkType=FullRecord&DestApp=WOSTest
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