المؤلفون: Langhammer, F, Maroofian, R, Badar, R, Gregor, A, Rochman, M, Ratliff, JB, Koopmans, M, Herget, T, Hempel, M, Kortüm, F, Heron, D, Mignot, C, Keren, B, Brooks, S, Botti, C, Ben-Zeev, B, Argilli, E, Sherr, EH, Gowda, VK, Srinivasan, VM, Bakhtiari, S, Kruer, MC, Salih, MA, Kuechler, A, Muller, EA, Blocker, K, Kuismin, O, Park, KL, Kochhar, A, Brown, K, Ramanathan, S, Clark, RD, Elgizouli, M, Melikishvili, G, Tabatadze, N, Stark, Z, Mirzaa, GM, Ong, J, Grasshoff, U, Bevot, A, von Wintzingerode, L, Jamra, RA, Hennig, Y, Goldenberg, P, Al Alam, C, Charif, M, Boulouiz, R, Bellaoui, M, Amrani, R, Al Mutairi, F, Tamim, AM, Abdulwahab, F, Alkuraya, FS, Khouj, EM, Alvi, JR, Sultan, T, Hashemi, N, Karimiani, EG, Ashrafzadeh, F, Imannezhad, S, Efthymiou, S, Houlden, H, Sticht, H, Zweier, C

المصدر: Genetics in Medicine , 25 (8) , Article 100885. (2023)

مصطلحات موضوعية: Developmental and epileptic encephalopathy, Intellectual disability, Neurodevelopmental disorder, RHOBTB2, Seizures

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10173027/1/RHOBTB_manuscript_230331_without%20trackchanges.docx.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10173027Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10173027/1/RHOBTB_manuscript_230331_without%20trackchanges.docx.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10173027Test/

المؤلفون: Li, Y., Pohl, E., Boulouiz, R., Schraders, M., Nurnberg, G., Charif, M., Admiraal, R.J.C., Ameln, S. von, Baessmann, I., Kandil, M., Veltman, J.A., Nurnberg, P., Kubisch, C., Barakat, A., Kremer, J.M.J., Wollnik, B.

المصدر: American Journal of Human Genetics, 86, 3, pp. 479-84

مصطلحات موضوعية: DCN 2: Functional Neurogenomics, IGMD 3: Genomic disorders and inherited multi-system disorders, NCMLS 6: Genetics and epigenetic pathways of disease

العلاقة: http://hdl.handle.net/2066/89417Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2010.02.003Test
http://hdl.handle.net/2066/89417Test