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Results 21-30 of 66 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2003The successful medical management of severe duodenal strictures secondary to eosinophilic gastroenteritis in an infantTan, H.; Sithasanan, N.; Foley, P.; Davidson, G.
2003Pharmacodynamics and dosing of aminoglycosidesTurnidge, J.
2003Investigating intellectual disability: a genetic perspectivePoplawski, N.
2003Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do notGecz, J.; Shaw, M.; Bellon, J.; de Barros Lopes, M.
2003Family 39 a-L-iduronidases and b-D-xylosidases react through similar glycosyl-enzyme intermediates: Identification of the human iduronidase nucleophileNieman, C.; Wong, A.; He, S.; Clarke, L.; Hopwood, J.; Withers, S.
2003Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4Shaw, M.; Brunetti-Pierre, N.; Kadasi, L.; Kovacova, V.; van Maldergem, L.; De Brasi, D.; Salerno, M.; Gecz, J.
2003Human leucocyte differentiation antigensZola, H.; Swart, B.
2003Disruption of the Serine/Threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardationKalscheuer, V.; Tao, J.; Donnelly, A.; Hollway, G.; Schwinger, E.; Kubart, S.; Menzel, C.; Hoeltzenbein, M.; Tommerup, N.; Eyre, H.; Harbord, M.; Haan, E.; Sutherland, G.; Ropers, H.; Gecz, J.
2003Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardationBurdon, K.; McKay, J.; Sale, M.; Russell-Eggitt, I.; Mackey, D.; Wirth, G.; Elder, J.; Nicoll, A.; Clarke, M.; FitzGerald, L.; Stankovich, J.; Shaw, M.; Sharma, S.; Gajovic, S.; Gruss, P.; Ross, S.; Thomas, P.; Voss, A.; Thomas, T.; Gecz, J.; et al.
2003Fibrosing colonopathyCouper, R.