1. Adelaide Research & Scholarship

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Results 1-10 of 11 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
1997Genomic structure and complete nucleotide sequence of the Batten Disease Gene, CLN3Mitchison, H.; Munroe, P.; O'Rawe, A.; Taschner, P.; De Vos, N.; Kremmidiotis, G.; Lensink, I.; Munk, A.; D'Arigo, K.; Anderson, J.; Lerner, T.; Moyzis, R.; Callen, D.; Breuning, M.; Doggett, N.; Gardiner, R.; Mole, S.
1998A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy.Donnelly, A.; Haan, E.; Manson, J.; Mulley, J.
1998Construction of an ~700-kb transcript map around the Familial Mediterranean Fever locus on human chromosome 16p13.3Centola, M.; Chen, X.; Sood, R.; Deng, Z.; Aksentijevich, I.; Blake, T.; Ricke, D.; Chen, X.; Wood, G.; Zaks, N.; Richards, N.; Krizman, D.; Mansfield, E.; Apostolou, S.; Liu, J.; Shafran, N.; Vedula, A.; Hamon, M.; Cercek, A.; Kahan, T.; et al.
1996A novel mutation in Exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegiaDonnelly, A.; Colley, A.; Crimmins, D.; Mulley, J.
1996Identification of the gene FMR2, associated with FRAXE mental retardationGecz, J.; Gedeon, A.; Sutherland, G.; Mulley, J.
1998A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.Town, M.; Jean, G.; Cherqui, S.; Attard, M.; Forestier, L.; Whitmore, S.; Callen, D.; Gribouval, O.; Broyer, M.; Bates, G.; van't Hoff, W.; Antignac, C.
1998Polymorphic variants within the homeobox gene MSX1: a candidate gene for developmental disorders.Hollway, G.; Mulley, J.
1999Genomic structure and expression analysis of the spastic paraplegia gene, SPG7Settasatian, C.; Whitmore, S.; Crawford, J.; Bilton, R.; Cleton-Jansen, A.M.; Sutherland, G.; Callen, D.
1997The genome organisation of the Fanconi Anemia Group A (FAA) GeneIanzano, L.; d'Apolito, M.; Centra, M.; Savino, M.; Levran, O.; Auerbach, A.; Cleton-Jansen, A.M.; Doggett, N.; Pronk, J.; Tipping, A.; Gibson, R.; Mathew, C.; Whitmore, S.; Apostolou, S.; Callen, D.; Zelante, L.; Savoia, A.
1998The human dead ringer/bright homolog, DRIL1: cDNA cloning, gene structure, and mapping to D19S886, a marker on 19p13.3 that is strictly linked to the Peutz-Jeghers Syndrome.Kortschak, R.; Reimann, H.; Zimmer, M.; Eyre, H.; Saint, R.; Jenne, D.

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