1. Adelaide Research & Scholarship

Search


Current filters:
Start a new search
Add filters:

Use filters to refine the search results.

 | 
Results 81-90 of 127 (Search time: 0.004 seconds).
Item hits:
PreviewIssue DateTitleAuthor(s)
1995Molecular dissection of a contiguous gene syndrome: Localization of the genes involved in the Langer-Giedion syndromeLudecke, H.J.; Wagner, M.; Nardmann, J.; La Pillo, B.; Parrish, J.; Willems, P.; Sutherland, G.
1997AMP-activated protein kinase isoenzyme family: subunit structure and chromosomal locationStapleton, D.; Woollatt, E.; Mitchelhill, K.; Nicholl, J.; Fernandez, C.; Michell, B.; Witters, L.; Power, D.; Sutherland, G.; Kemp, B.
2004Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear proteinSarafidou, T.; Kahl, C.; Martinez-Garay, I.; Mangelsdorf, M.; Gesk, S.; Baker, E.; Kokkinaki, M.; Talley, P.; Maltby, E.; French, L.; Harder, L.; Hinzmann, B.; Nobile, C.; Richkind, K.; Finnis, M.; Deloukas, P.; Sutherland, G.; Kutsche, K.; Moschonas, N.; Siebert, R.; et al.
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.
1995Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to 20q13.2Phillips, H.; Scheffer, I.; Berkovic, S.; Hollway, G.; Sutherland, G.; Mulley, J.
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.
1995Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndromeScott, H.; Blanch, L.; Guo, X.H.; Freeman, C.; Orsborn, A.; Baker, E.; Sutherland, G.; Morris, C.; Hopwood, J.
1998FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesisHewett, D.; Handt, O.; Hobson, L.; Mangelsdorf, M.; Eyre, H.; Baker, E.; Sutherland, G.; Schuffenhauer, S.; Mao, J.I.; Richards, R.
1995Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2Jones, C.; Penny, L.; Mattina, T.; Yu, S.; Baker, E.; Voullaire, L.; Langdon, W.; Sutherland, G.; Richards, R.; Tunnacliffe, A.
1995A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsySteinlein, O.; Mulley, J.; Propping, P.; Wallace, R.; Phillips, H.; Sutherland, G.; Scheffer, I.; Berkovic, S.

Discover