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Issue Date
Title
Author(s)
2003
Investigating intellectual disability: a genetic perspective
Poplawski, N.
2002
Urine amino and organic acids analysis in developmental delay or intellectual disability
Poplawski, N.
;
Harrison, J.
;
Norton, W.
;
Wiltshire, E.
;
Fletcher, J.
2001
Active observation of children with possible appendicitis does not increase morbidity
Kirby, C.
;
Sparnon, A.
2004
Cord-blood transplants from unrelated donors in patients with Hurler's Syndrome
Staba, 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.
2007
Mutations 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 tremor
Tarpey, 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.
2007
Outcome of neonatal screening for medium-chain acyl-CoA dehydragenase deficiency in Australia: a cohort study
Wilcken, B.
;
Haas, M.
;
Joy, P.
;
Wiley, V.
;
Chaplin, M.
;
Black, C.
;
Fletcher, J.
;
McGill, J.
;
Boneh, A.
2002
Escherichia coli 'O' group serological responses and clinical correlations in epidemic HUS patients
Kulkarni, H.
;
Goldwater, P.
;
Martin, A.
;
Bettelheim, K.
2000
Behaviour and neurocognitive performance in children aged 5-10 years who snore compared to controls
Blunden, S.
;
Lushington, K.
;
Kennedy, J.
;
Martin, A.
;
Drew, D.
2004
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation
Freude, 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.
2005
Sleep-disordered breathing in Prader-Willi syndrome and its association with neurobehavioral abnormalities
O'Donoghue, F.
;
Camfferman, D.
;
Kennedy, J.
;
Martin, A.
;
Couper, T.
;
Lack, L.
;
Lushington, K.
;
McEvoy, R.
Discover
Author
11
Davidson, G.
10
Hopwood, J.
8
Gecz, J.
8
Omari, T.
7
Gold, M.
6
Baghurst, P.
6
Fletcher, J.
5
et al.
5
Martin, A.
4
Benninga, M.
.
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Infant, Newborn
18
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10
2009
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2007
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11
2005
7
2004
10
2003
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2002
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2001
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2000
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