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Results 31-40 of 95 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2003Investigating intellectual disability: a genetic perspectivePoplawski, N.
2002Urine amino and organic acids analysis in developmental delay or intellectual disabilityPoplawski, N.; Harrison, J.; Norton, W.; Wiltshire, E.; Fletcher, J.
2001Active observation of children with possible appendicitis does not increase morbidityKirby, C.; Sparnon, A.
2004Cord-blood transplants from unrelated donors in patients with Hurler's SyndromeStaba, S.; Escolar, M.; Poe, M.; Kim, Y.; Martin, P.; Szabolcs, P.; Allison-Thacker, J.; Wood, S.; Wenger, D.; Rubenstein, P.; Hopwood, J.; Krivit, W.; Kurtzberg, J.
2007Mutations in CUL4B which encodes a ubiquitin E3 ligase subunit cause an X-linked mental retardation syndrome associated with aggressive outbursts seizures relative macrocephaly central obesity hypogonadism pes cavus and tremorTarpey, P.; Raymond, F.; O'Meara, S.; Edkins, S.; Teague, J.; Butler, A.; Dicks, E.; Stevens, C.; Tofts, C.; Avis, T.; Barthorpe, S.; Buck, G.; Cole, J.; Gray, K.; Halliday, K.; Harrison, R.; Hills, K.; Jenkinson, A.; Jones, D.; Menzies, A.; et al.
2007Outcome of neonatal screening for medium-chain acyl-CoA dehydragenase deficiency in Australia: a cohort studyWilcken, B.; Haas, M.; Joy, P.; Wiley, V.; Chaplin, M.; Black, C.; Fletcher, J.; McGill, J.; Boneh, A.
2002Escherichia coli 'O' group serological responses and clinical correlations in epidemic HUS patientsKulkarni, H.; Goldwater, P.; Martin, A.; Bettelheim, K.
2000Behaviour and neurocognitive performance in children aged 5-10 years who snore compared to controlsBlunden, S.; Lushington, K.; Kennedy, J.; Martin, A.; Drew, D.
2004Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardationFreude, K.; Hoffmann, K.; Jensen, L.; Delatycki, M.; des Portes, V.; Moser, B.; Hamel, B.; van Bokhoven, H.; Moraine, C.; Fryns, J.; Chelly, J.; Gecz, J.; Lenzner, S.; Kalscheuer, V.; Ropers, H.
2005Sleep-disordered breathing in Prader-Willi syndrome and its association with neurobehavioral abnormalitiesO'Donoghue, F.; Camfferman, D.; Kennedy, J.; Martin, A.; Couper, T.; Lack, L.; Lushington, K.; McEvoy, R.