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Research Output 2011 2018

Phenotypes and genotypes in individuals with SMC1A variants

Huisman, S. , Mulder, P. A. , Redeker, E. , Bader, I. , Bisgaard, A. M. , Brooks, A. , Cereda, A. , Cinca, C. , Clark, D. , Cormier-Daire, V. , Deardorff, M. A. , Diderich, K. , Elting, M. , van Essen, A. , FitzPatrick, D. , Gervasini, C. , Gillessen-Kaesbach, G. , Girisha, K. M. , Hilhorst-Hofstee, Y. , Hopman, S. & 28 others Horn, D., Isrie, M., Jansen, S., Jespersgaard, C., Kaiser, F. J., Kaur, M., Kleefstra, T., Krantz, I. D., Lakeman, P., Landlust, A., Lessel, D., Michot, C., Moss, J., Noon, S. E., Oliver, C., Parenti, I., Pie, J., Ramos, F. J., Rieubland, C., Russo, S., Selicorni, A., Tümer, Z., Vorstenbosch, R., Wenger, T. L., van Balkom, I., Piening, S., Wierzba, J. & Hennekam, R. C., 1 Aug 2017, In : American Journal of Medical Genetics, Part A. 173, 8, p. 2108-2125 18 p.

Research output: Contribution to journalArticleAcademicpeer-review

Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy

Siekierska, A., Isrie, M., Liu, Y., Scheldeman, C., Vanthillo, N., Lagae, L., Witte, P. A. M. D., Esch, H. V., Goldfarb, M. & Buyse, G. M., 7 Jun 2016, In : Neurology. 86, 23, p. 2162-2170 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Mutations in cep120 cause joubert syndrome as well as complex ciliopathy phenotypes

Roosing, S. , Romani, M. , Isrie, M. , Rosti, R. O. , Micalizzi, A. , Musaev, D. , Mazza, T. , Al-gazali, L. , Altunoglu, U. , Boltshauser, E. , D'Arrigo, S. , Keersmaecker, B. D. , Kayserili, H. , Brandenberger, S. , Kraoua, I. , Mark, P. R. , McKanna, T. , Keirsbilck, J. V. , Moerman, P. , Poretti, A. & 4 others Puri, R., Esch, H. V., Gleeson, J. G. & Valente, E. M., 1 Sep 2016, In : Journal of Medical Genetics. 53, 9, p. 608-615 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Homozygous missense mutation in STYXL1 associated with moderate intellectual disability, epilepsy and behavioural complexities

Isrie, M., Zamani Esteki, M., Peeters, H., Voet, T., Van Houdt, J., Van Paesschen, W. & Van Esch, H., 1 Jan 2015, In : European Journal of Medical Genetics. 58, 4, p. 205-210 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Prizes

Ben ter Haar prize

Mala Misra-Isrie (Recipient), 2018

Prize