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Results 31-40 of 96 (Search time: 0.008 seconds).
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PreviewIssue DateTitleAuthor(s)
1995FRAXE and mental retardationMulley, J.; Yu, S.; Loesch, D.; Hay, D.; Donnelly, A.; Gedeon, A.; Carbonell, P.; Lopez, I.; Glover, G.; Garbarron, I.; Yu, P.; Baker, E.; Haan, E.; Hockey, A.; Knight, S.; Daview, K.; Richards, R.; Sutherland, G.
1999The Batten disease gene product (CLN3p) is a Golgi integral membrane proteinKremmidiotis, G.; Lensink, I.; Bilton, R.; Woollatt, E.; Chataway, T.; Sutherland, G.; Callen, D.
1995Integration of transcript and genetic maps of chromosome 16 at near-1-Mb resolution: demonstration of a 'hot-spot' for recombination at 16p12Callen, D.; Lane, S.; Kozman, H.; Kremmidiotis, G.; Whitmore, S.; Lowenstein, M.; Doggett, N.; Kenmochi, N.; Page, D.; Maglott, D.; Nierman, W.; Murakawa, K.; Sikela, J.; Houlgatte, R.; Auffray, C.; Sutherland, G.
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.
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.
1999Genomic structure and expression analysis of the spastic paraplegia gene, SPG7Settasatian, C.; Whitmore, S.; Crawford, J.; Bilton, R.; Cleton-Jansen, A.; Sutherland, G.; Callen, D.
1995Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndromeScott, H.; Blanch, L.; Guo, X.; 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.; Richards, R.
1999Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHMFriend, K.; Crimmins, D.; Phan, T.; Sue, C.; Colley, A.; Fung, V.; Morris, J.; Sutherland, G.; Richards, R.
1997Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal diseaseNarahara, K.; Baker, E.; Ito, S.; Yokoyama, Y.; Yu, S.; Hewitt, D.; Sutherland, G.; Eccles, M.; Richards, R.