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de Brouwer, A. P. M., Williams, K. L., Duley, J. A., van Kuilenburg, A. B. P., Nabuurs, S. B., Egmont-Petersen, M., Lugtenberg, D., Zoetekouw, L., Banning, M. J. G., Roeffen, M., Hamel, B. C. J., Weaving, L., Ouvrier, R. A., Donald, J. A., Wevers, RA, Christodoulou, J. and van Bokhoven, H. (2007) Arts syndrome is caused by loss-of-function mutations in PRPS1. American Journal of Human Genetics, 81 3: 507-518. doi:10.1086/520706 80   25 Cited 32 times in Scopus32 0
Kleefstra, T., van Zelst-Stams, W. A., Nillesen, W. M., Cormier-Daire, V., Houge, G., Foulds, N., van Dooren, M., Willemsen, M. H., Pfundt, R., Turner, A., Wilson, M., McGaughran, J., Rauch, A., Zenker, M., Adam, M. P., Innes, M., Davies, C., Lopez, A. Gonzalez-Meneses, Casalone, R., Weber, A., Brueton, L. A., Navarro, A. Delicado, Bralo, M. Palomares, Venselaar, H., Stegmann, S. P. A., Yntema, H. G., van Bokhoven, H. and Brunner, H. G. (2009) Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. Journal of Medical Genetics, 46 9: 598-606. doi:10.1136/jmg.2008.062950 16   55 Cited 67 times in Scopus67 0
de Brouwer, Arjan P. M., van Bokhoven, H., Nabuurs, S. B., Arts, W. F., Christodoulou, J. and Duley, John (2010) PRPS1 mutations: Four distinct syndromes and potential treatment. American Journal of Human Genetics, 86 4: 506-518. doi:10.1016/j.ajhg.2010.02.024 45   20 Cited 22 times in Scopus22 0