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Results 11-20 of 29 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
1996Gene localisation for Sutherland-Haan syndrome (SHS:MIM 309470)Gedeon, A.; Haan, E.; Mulley, J.
1996Refinement of the background genetic map of Xq26-q27 and gene localisation for Borjeson-Forssman-Lehmann syndromeGedeon, A.; Kozman, H.; Robinson, H.; Pilia, G.; Schlessinger, D.; Turner, G.; Mulley, J.
1996Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardationGedeon, A.; Glass, I.; Connor, J.; Mulley, J.
1998Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2Scheffer, I.; Phillips, H.; O'Brien, C.; Saling, M.; Wrennall, J.; Wallace, R.; Mulley, J.; Berkovic, S.
1999Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patientGecz, J.; Baker, E.; Donnelly, A.; Ming, J.; McDonald-McGinn, D.; Spinner, N.; Zackai, E.; Sutherland, G.; Mulley, J.
1997Mutation detection in FGFR2 craniosynostosis syndromesHollway, G.; Suthers, G.; Haan, E.; Thompson, E.; David, D.; Gecz, J.; Mulley, J.
1998Deafness due to Pro250Arg mutation of FGFR3Hollway, G.; Suthers, G.; Battese, K.; Turner, A.; David, D.; Mulley, J.
1998Gene localisation for an autosomal dominant familial periodic fever to 12p13.Mulley, J.; Saar, K.; Hewitt, G.; Rueschendorf, F.; Phillips, H.; Colley, A.; Sillence, D.; Reis, A.; Wilson, M.
1997FMR2 expression in families with FRAXE mental retardationGecz, J.; Oostra, B.; Hockey, A.; Carbonell, P.; Turner, G.; Haan, E.; Sutherland, G.; Mulley, J.
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.