Search


Current filters:
Start a new search
Add filters:

Use filters to refine the search results.


Results 61-70 of 107 (Search time: 0.006 seconds).
Item hits:
PreviewIssue DateTitleAuthor(s)
1997FMR2 expression in families with FRAXE mental retardationGecz, J.; Oostra, B.; Hockey, A.; Carbonell, P.; Turner, G.; Haan, E.; Sutherland, G.; Mulley, J.
1996Structure and sequence of the human sulphamidase geneKarageorgos, L.; Guo, X.H.; Blanch, L.; Weber, B.; Anson, D.; Scott, H.; Hopwood, J.
2007Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factorAli, A.; Christie, P.; Grigorieva, I.; Harding, B.; Van Esch, H.; Ahmed, S.; Bitner-Glindzicz, M.; Blind, E.; Bloch, C.; Christin, P.; Clayton, P.; Gecz, J.; Gilbert-Dussardier, B.; Guillen-Navarro, E.; Hackett, A.; Halac, I.; Hendy, G.; Lalloo, F.; Mache, C.; Mughal, Z.; et al.
1995In vivo delivery of human α-L-iduronidase in mice implanted with neo-organsSalvetti, A.; Moullier, P.; Cornet, V.; Brooks, D.; Hopwood, J.; Danos, O.; Heard, J.M.
2001A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutantBhattacharyya, R.; Gliddon, B.; Beccari, T.; Hopwood, J.; Stanley, P.
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.
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.
2003Mouse sulphamidase gene: characterization of the promoter region of the gene and expression in mouse tissuesCostanzi, E.; Beccari, T.; Aisa, M.; Tiribuzi, R.; Hopwood, J.; Orlacchio, A.
2002α-Mannosidosis in the guinea pig: cloning of the lysosomal α-mannosidase cDNA and identification of a missense mutation causing α-mannosidosisBerg, T.; Hopwood, J.
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.