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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
Chiong, M. A., Marinaki, A., Duley, J., Bennetts, B., Ouvrier, R. and Christodoulou, J. (2006) Lesch-Nyhan disease in a 20-year-old man incorrectly described as developing 'cerebral palsy' after general anaesthesia in infancy. Journal of Inherited Metabolic Disease, 29 4: 594-594. doi:10.1007/s10545-006-0281-4 52   2 Cited 4 times in Scopus4 0
Wilcken, B., Haas, M., Joy, P., Wiley, V. C., Bowling, F., Carpenter, K. H., Christodoulou, J., Cowley, D., Ellaway, C., Fletcher, J. M., Kirk, E. P., Lewis, B., McGill, J., Peters, H., Pitt, J., Ranieri, E., Yaplito-Lee, J. and Boneh, A. (2009). Newborn Screening by Tandem Mass Spectrometry: a Cohort Study Comparing Outcome in Screened and Clinically Diagnosed Patients At Six Years of Age. In: Molecular Genetics and Metabolism. 11th International Conference of Inborn Errors of Metabolism, San Diego Ca, (3-3). Aug 29-Sep 02, 2009. 15   0
Jian L., Nagarajan L., de Klerk N., Ravine D., Bower C., Anderson A., Williamson S., Christodoulou J. and Leonard H. (2006) Predictors of seizure onset in Rett syndrome. Journal of Pediatrics, 149 4: 542-547. doi:10.1016/j.jpeds.2006.06.015 6   34 Cited 38 times in Scopus38 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
Williams, G. D., Christodoulou, J., Stack, J., Symons, P., Wert, S. E., Murrell, M. J. and Nogee, L. M. (1999) Surfactant protein B deficiency: Clinical, histological and molecular evaluation. Journal of Paediatric and Child Health, 35 2: 214-220. doi:10.1046/j.1440-1754.1999.00307.x 15   19 Cited 25 times in Scopus25 0
Bebbington, A., Percy, A., Christodoulou, J., Ravine, D., Ho, G., Jacoby, P., Anderson, A., Pineda, M., Ben Zeev, B., Bahi-Buisson, N., Smeets, E. and Leonard, H. (2010) Updating the profile of C-terminal MECP2 deletions in Rett syndrome. Journal of Medical Genetics, 47 4: 242-248. doi:10.1136/jmg.2009.072553 6   22 Cited 23 times in Scopus23 1