1. Adelaide Research & Scholarship

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Results 1-10 of 18 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
1999Testisin, a new human serine proteinase expressed by premeiotic testicular germ cells and lost in testicular germ cell tumorsHooper, J.; Nicol, D.; Dickinson, J.; Eyre, H.; Scarman, A.; Normyle, J.; Stuttgen, M.; Douglas, M.; Loveland, K.; Sutherland, G.; Antalis, T.
1995Improving diagnosis of Huntington's disease by analysis of an intragenic trinucleotide repeat expansionFirgaira, F.; Turner, D.; Haan, E.; Suthers, G.
1995Localisation of the adenosine A2b receptor subtype (ADORA2B) to chromosome 17p11.2-p12 by FISH and PCR screening of somatic cell hybridsTownsend-Nicholson, A.; Baker, E.; Sutherland, G.; Schofield, P.
1995The CEPH consortium linkage map of human chromosome 16Kozman, H.; Keith, T.; Donis-Keller, H.; White, R.; Weissenbach, J.; Sutherland, G.
1996Feline mucopolysaccharidosis type VI - characterization of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the diseaseYogalingam, G.; Litjens, T.; Bielicki, J.; Crawley, A.; Muller, V.; Anson, D.; Hopwood, J.
1997FMR2 expression in families with FRAXE mental retardationGecz, J.; Oostra, B.; Hockey, A.; Carbonell, P.; Turner, G.; Haan, E.; Sutherland, G.; Mulley, J.
1995Molecular basis of p(CCG)n repeat instability at the FRA16A fragile site locusNancarrow, J.; Holman, K.; Hori, T.; Denton, M.; Sutherland, G.; Richards, R.
1997Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeatYu, S.; Mangelsdorf, M.; Hewett, D.; Hobson, L.; Baker, E.; Eyre, H.; Lapsys, N.; Le Paslier, D.; Doggett, N.; Sutherland, G.; Richards, R.
1996Positional cloning of the Fanconi anaemia group A geneApostolou, S.; Whitmore, S.; Crawford, J.; Lennon, G.; Sutherland, G.; Callen, D.; Ianzano, L.; Savino, M.; d'Apolito, M.; Notarangelo, A.; Memeo, E.; Piemontese, M.; Zelante, L.; Savoia, A.; Gibson, R.; Tipping, A.; Morgan, N.; Hassock, S.; Jansen, S.; de Ravel, T.; et al.

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