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Results 1-10 of 42 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
1996Children with hyperimmunoglobulinemia D and periodic fever syndromeGrose, C.; Schnetzer, J.; Ferrante, A.; Vladutiu, A.
1998Coexistence of Gaucher-Disease Type 1 and Joubert-SyndromeVan Royen-Kerkhof, A.; Pollthe, B.; Kleijer, W.; van Diggelen, O.; Aerts, J.; Hopwood, J.; Beemer, F.
1996Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patientsLitjens, T.; Brooks, D.; Peters, C.; Gibson, G.; Hopwood, J.
1995Haemolytic uraemic syndrome due to a Shiga-like toxin-producing Escherichia coli 048: H21 in South AustraliaGoldwater, P.; Bettelheim, K.
1998Transcranial correction of orbital neurofibromatosisSnyder, B.; Hanieh, A.; Trott, J.; David, D.
1995Adverse outcomes of bacterial meningitis in school aged survivorsGrimwood, K.; Anderson, V.; Bond, L.; Catroppa, C.; Hore, R.; Keir, E.; Nolan, T.; Roberton, D.
1997High resolution characterisation of an interstitial deletion of less than 1.9Mb at 4p16.3 associated with Wolf-Hirschhorn SyndromeFang, Y.; Bain, S.; Haan, E.; Eyre, H.; MacDonald, M.; Wright, T.; Altherr, M.; Riess, O.; Sutherland, G.; Callen, D.
1998Haemolytic-uraemic syndrome outbreak caused by Escherichia coli O111:H-: clinical outcomesHenning, P.; Tham, E.; Martin, A.; Beare, T.; Jureidini, K.
1996Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndromeIsbrandt, D.; Hopwood, J.; von Figura, K.; Peters, C.
1996Differentiation of rare leukodystrophies by post-mortem morphological and biochemical studies: female adrenoleukodystrophy-like disease and late-onset Krabbe diseaseGullotta, F.; Hughes, J.; Wittkowski, W.; Poulos, A.; Strater, R.; Bernheimer, H.; Harzer, K.