Adelaide Research & Scholarship: Search

Search

Search:
for

Current filters:

Start a new search

Add filters:

Results/Page | Sort items by In order Authors/record

Results 1-10 of 14 (Search time: 0.002 seconds).

previous
1
2
next

Item hits:

Preview	Issue Date	Title	Author(s)
	1994	Carbon catabolite repression	Kelly, J.; Martinelli, S.; Kinghorn, J.
	1999	Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda	Gedeon, A.; Colley, A.; Jamieson, R.; Thompson, E.; Rogers, J.; Sillence, D.; Tiller, G.; Mulley, J.; Gecz, J.
	1994	Exclusion of growth hormone (GH)-releasing hormone gene mutations in familial isolated GH deficiency by linkage and single strand conformation analysis	Pérez Jurado, L.; Phillips, J.; Francke, U.
	1995	Apert syndrome results from localised mutations of FGFR2 and is allelic with Crouzon syndrome	Wilkie, A.; Slaney, S.; Oldridge, M.; Poole, M.; Ashworth, G.; Hockley, A.; Hayward, R.; David, D.; Pulleyn, L.; Rutland, P.; Malcolm, S.; Winter, R.; Reardon, W.
	1996	Positional cloning of the Fanconi anaemia group A gene	Apostolou, 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.
	1998	FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesis	Hewett, D.; Handt, O.; Hobson, L.; Mangelsdorf, M.; Eyre, H.; Baker, E.; Sutherland, G.; Schuffenhauer, S.; Mao, J.I.; Richards, R.
	1996	A novel X-linked gene, G4.5. is responsible for Barth Syndrome	Bione, S.; D'Adamo, P.; Maestrini, E.; Gedeon, A.; Bolhuis, P.; Toniolo, D.
	1999	Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes	Weber, B.; Guo, X.H.; Kleijer, W.; van de Kamp, J.; Poorthuis, B.; Hopwood, J.
	1998	Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 gene	Gibson, M.; Ellis, S.; Ades, L.; Haan, E.; Cleary, E.
	1996	Stable inheritance of an HLA-"blank" phenotype associated with a structural mutation in the HLA-A*0301 gene	Lienert, K.; Russ, G.; Lester, S.; Bennet, G.; Gao, X.; McCluskey, J.