المؤلفون: Wade, E.M., Daniel, P.B., Jenkins, Z.A., McInerney-Leo, A., Leo, P., Morgan, T., Addor, M.C., Adès, L.C., Bertola, D., Bohring, A., Carter, E., Cho, T.J., Duba, H.C., Fletcher, E., Kim, C.A., Krakow, D., Morava, E., Neuhann, T., Superti-Furga, A., Veenstra-Knol, I., Wieczorek, D., Wilson, L.C., Hennekam, R.C., Sutherland-Smith, A.J., Strom, T.M., Wilkie, A.O., Brown, M.A., Duncan, E.L., Markie, D.M., Robertson, S.P.

المصدر: American journal of human genetics, vol. 99, no. 2, pp. 392-406

مصطلحات موضوعية: Adaptor Proteins, Signal Transducing/genetics, Signal Transducing/metabolism, Female, Filamins/genetics, Forehead/abnormalities, Humans, MAP Kinase Kinase Kinases/genetics, MAP Kinase Kinase Kinases/metabolism, MAP Kinase Signaling System/genetics, Male, Mutation/genetics, NF-kappa B/metabolism, Osteochondrodysplasias/genetics, Osteochondrodysplasias/metabolism, Phosphorylation, Protein Binding, Protein Multimerization, Signal Transduction/genetics

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27426733; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_CD2DAF16D0862; https://serval.unil.ch/notice/serval:BIB_CD2DAF16D086Test; urn:issn:0002-9297; https://serval.unil.ch/resource/serval:BIB_CD2DAF16D086.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_CD2DAF16D0862Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2016.05.024Test
https://serval.unil.ch/notice/serval:BIB_CD2DAF16D086Test
https://serval.unil.ch/resource/serval:BIB_CD2DAF16D086.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_CD2DAF16D0862Test

المؤلفون: O'Neill, A.C., Kyrousi, C., Klaus, J., Leventer, R.J., Kirk, E.P., Fry, A., Pilz, D.T., Morgan, T., Jenkins, Z.A., Drukker, M., Berkovic, S.F., Scheffer, I.E., Guerrini, R., Markie, D.M., Gotz, M., Cappello, S., Robertson, S.P.

المصدر: Cell Reports

وصف الملف: application/pdf

العلاقة: lucris-id: 339628572; https://hdl.handle.net/1887/138592Test

الإتاحة: https://doi.org/10.1016/j.celrep.2018.11.029Test
https://hdl.handle.net/1887/138592Test

المؤلفون: Wade, E.M., Jenkins, Z.A., Daniel, P.B., Morgan, T., Addor, M.C., Adés, L.C., Bertola, D., Bohring, A., Carter, E., Cho, T.J., de Geus, C.M., Duba, H.C., Fletcher, E., Hadzsiev, K., Hennekam, RCM, Kim, C.A., Krakow, D., Morava, E., Neuhann, T., Sillence, D., Superti-Furga, A., Veenstra-Knol, H.E., Wieczorek, D., Wilson, L.C., Markie, D.M., Robertson, S.P.

المصدر: American journal of medical genetics. Part A, vol. 173, no. 7, pp. 1730-1746

مصطلحات موضوعية: Frontometaphyseal dysplasia, TAB2, TAK1, keloid, locus heterogeneity, scoliosis

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28498505; info:eu-repo/semantics/altIdentifier/eissn/1552-4833; https://serval.unil.ch/notice/serval:BIB_1A54928B107CTest; urn:issn:1552-4825

الإتاحة: https://doi.org/10.1002/ajmg.a.38267Test
https://serval.unil.ch/notice/serval:BIB_1A54928B107CTest

المؤلفون: Cappello, S., Gray, M.J., Badouel, C., de Lange, S., Einsiedler, M., Srour, M., Chitayat, D., Hamdan, F.F., Jenkins, Z.A., Morgan, T., Preitner, N., Uster, T., Thomas, J., Shannon, P., Morrison, V., Di Donato, N., van Maldergem, L., Neuhann, T., Newbury-Ecob, R., Swinkells, M., Terhal, P., Wilson, L.C., Zwijnenburg, P.J.G., Sutherland-Smith, A.J., Black, M.A., Markie, D., Michaud, J.L., Simpson, M.A., Mansour, S., McNeill, H., Gotz, M., Robertson, S.P.

المصدر: Cappello , S , Gray , M J , Badouel , C , de Lange , S , Einsiedler , M , Srour , M , Chitayat , D , Hamdan , F F , Jenkins , Z A , Morgan , T , Preitner , N , Uster , T , Thomas , J , Shannon , P , Morrison , V , Di Donato , N , van Maldergem , L , Neuhann , T , Newbury-Ecob , R , Swinkells , M , Terhal , P , Wilson , L C , Zwijnenburg , P J ....

العلاقة: https://research.vumc.nl/en/publications/bf035f1b-0d99-4481-b370-55bd7d8a87c8Test

الإتاحة: https://doi.org/10.1038/ng.2765Test
https://research.vumc.nl/en/publications/bf035f1b-0d99-4481-b370-55bd7d8a87c8Test

المؤلفون: Jenkins, Z.A., Henry, H.M., Galloway, S.M., Dodds, K.G., Montgomery, G.W.

المصدر: Cytogenetics & Cell Genetics; 1997, Vol. 78 Issue 3/4, p272-274, 3p