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Issue Date
Title
Author(s)
1996
Children with hyperimmunoglobulinemia D and periodic fever syndrome
Grose, C.
;
Schnetzer, J.
;
Ferrante, A.
;
Vladutiu, A.
1998
Coexistence of Gaucher-Disease Type 1 and Joubert-Syndrome
Van Royen-Kerkhof, A.
;
Pollthe, B.
;
Kleijer, W.
;
van Diggelen, O.
;
Aerts, J.
;
Hopwood, J.
;
Beemer, F.
1996
Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients
Litjens, T.
;
Brooks, D.
;
Peters, C.
;
Gibson, G.
;
Hopwood, J.
1995
Haemolytic uraemic syndrome due to a Shiga-like toxin-producing Escherichia coli 048: H21 in South Australia
Goldwater, P.
;
Bettelheim, K.
1998
Transcranial correction of orbital neurofibromatosis
Snyder, B.
;
Hanieh, A.
;
Trott, J.
;
David, D.
1995
Adverse outcomes of bacterial meningitis in school aged survivors
Grimwood, K.
;
Anderson, V.
;
Bond, L.
;
Catroppa, C.
;
Hore, R.
;
Keir, E.
;
Nolan, T.
;
Roberton, D.
1997
High resolution characterisation of an interstitial deletion of less than 1.9Mb at 4p16.3 associated with Wolf-Hirschhorn Syndrome
Fang, Y.
;
Bain, S.
;
Haan, E.
;
Eyre, H.
;
MacDonald, M.
;
Wright, T.
;
Altherr, M.
;
Riess, O.
;
Sutherland, G.
;
Callen, D.
1998
Haemolytic-uraemic syndrome outbreak caused by Escherichia coli O111:H-: clinical outcomes
Henning, P.
;
Tham, E.
;
Martin, A.
;
Beare, T.
;
Jureidini, K.
1996
Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome
Isbrandt, D.
;
Hopwood, J.
;
von Figura, K.
;
Peters, C.
1996
Differentiation of rare leukodystrophies by post-mortem morphological and biochemical studies: female adrenoleukodystrophy-like disease and late-onset Krabbe disease
Gullotta, F.
;
Hughes, J.
;
Wittkowski, W.
;
Poulos, A.
;
Strater, R.
;
Bernheimer, H.
;
Harzer, K.
Discover
Author
7
Hopwood, J.
6
Haan, E.
4
Roberton, D.
3
Ferrante, A.
3
Goldwater, P.
3
Moore, D.
2
Ades, L.
2
Blanch, L.
2
Couper, J.
2
Couper, R.
.
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Female
27
Child
26
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18
Infant
17
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15
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8
Infant, Newborn
6
Australia
5
Syndrome
4
Follow-Up Studies
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Date issued
4
1999
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1996
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1995