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

الإتاحة: https://doi.org/10.1016/j.xhgg.2022.100111Test
http://hdl.handle.net/11343/310662Test

المؤلفون: Asif, M., Kaygusuz, E., Shinawi, M., Nickelsen, A., Hsieh, T.C., Wagle, P., Budde, B., 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., Tinschert, S., Samra, N.G., Savatt, J.M., Rudy, N.L., De Luca, C., Fortugno, P., White, S.M., Krawitz, P., Hurst, A.C.E., Niefind, K., Jose, J., Brancati, F., Nürnberg, P., Hussain, M.S.

مصطلحات موضوعية: Technology Platforms, Topic 1: Genes, Cells and Cell-Based Medicine

وصف الملف: application/pdf; other

العلاقة: http://edoc.mdc-berlin.de/21584/1/21584oa.pdfTest; http://edoc.mdc-berlin.de/21584/2/21584suppl.zipTest; De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway. Asif, M. and Kaygusuz, E. and Shinawi, M. and Nickelsen, A. and Hsieh, T.C. and Wagle, P. and Budde, B. and Hochscherf, J. and Abdullah, U. and Höning, S. and Nienberg, C. and Lindenblatt, D. and Noegel, A.A. and Altmüller, J. and Thiele, H. and Motameny, S. and Fleischer, N. and Segal, I. and Pais, L. and Tinschert, S. and Samra, N.G. and Savatt, J.M. and Rudy, N.L. and De Luca, C. and Fortugno, P. and White, S.M. and Krawitz, P. and Hurst, A.C.E. and Niefind, K. and Jose, J. and Brancati, F. and Nürnberg, P. and Hussain, M.S. Human Genetics and Genomics Advances 3 (3): 100111. 14 July 2022

الإتاحة: https://doi.org/10.1016/j.xhgg.2022.100111Test
http://edoc.mdc-berlin.de/21584Test/
https://edoc.mdc-berlin.de/21584Test/
http://edoc.mdc-berlin.de/21584/1/21584oa.pdfTest
http://edoc.mdc-berlin.de/21584/2/21584suppl.zipTest

المؤلفون: Gratz, A. (Andreas), Bollacke, A. (Andre), Stephan, S. (Sara), Nienberg, C. (Christian), Le Borgne, M. (Marc), Götz , C. (Claudia), Jose, J. (Joachim)

المساهمون: Universitäts- und Landesbibliothek Münster

مصطلحات موضوعية: Assay, Autodisplay, CK2, Heterotetramer, Protein kinase, Screening, Surface display, Drug discovery, ddc:540, info:eu-repo/classification/ddc/540, Chemistry and allied sciences

وصف الملف: application/pdf

العلاقة: https://nbn-resolving.org/urn:nbn:de:hbz:6-49229555362Test; urn:nbn:de:hbz:6-49229555362; https://miami.uni-muenster.de/Record/dcf534bd-5af8-4777-9a5c-0a08ae2ad905Test; https://repositorium.uni-muenster.de/transfer/miami/dcf534bd-5af8-4777-9a5c-0a08ae2ad905Test

الإتاحة: https://doi.org/10.1186/s12934-015-0263-zTest
https://nbn-resolving.org/urn:nbn:de:hbz:6-49229555362Test
https://miami.uni-muenster.de/Record/dcf534bd-5af8-4777-9a5c-0a08ae2ad905Test
https://repositorium.uni-muenster.de/transfer/miami/dcf534bd-5af8-4777-9a5c-0a08ae2ad905Test