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Results 1-10 of 12 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
1998A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy.Donnelly, A.; Haan, E.; Manson, J.; Mulley, J.
1998Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24Phillips, H.; Scheffer, I.; Crossland, K.; Bhatia, K.; Fish, D.; Marsden, C.; Howell, S.; Stephenson, J.; Tolmie, J.; Plazzi, G.; Eeg-Olofsson, O.; Singh, R.; Lopes-Cendes, I.; Andermann, E.; Berkovic, S.; Mulley, J.
1998Febrile seizures and generalised epilepsy associated with a mutation in the Na+-channel b1 subunit gene SCN1BWallace, R.; Wang, D.; Singh, R.; Scheffer, I.; George Jnr., A.; Phillips, H.; Saar, K.; Reis, A.; Johnson, E.; Sutherland, G.; Berkovic, S.; Mulley, J.
1998Analysis of a Drosophila cyclin E hypomorphic mutation suggests a novel role for Cyclin E in cell proliferation control during eye imaginal disc development.Secombe, J.; Pispa, J.; Saint, R.; Richardson, H.
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.
1998A new pineoblastoma cell line, PER-480, with der(10)t(10;17), der(16)t(1;16), & enhanced MYC expression in the absence of gene amplification.Kees, U.; Spagnolo, D.; Hallam, L.; Ford, J.; Ranford, P.; Baker, D.; Callen, D.; Biegel, J.
1998Analysis of Australian Crohn's disease pedigrees refines the localization for susceptibility to inflammatory bowel disease on chromosome 16Cavanaugh, J.; Callen, D.; Wilson, S.; Stanford, P.; Sraml, M.; Gorska, M.; Crawford, J.; Whitmore, S.; Shlegel, C.; Foote, S.; Kohonen-Corish, M.; Pavli, P.
1998A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.Town, M.; Jean, G.; Cherqui, S.; Attard, M.; Forestier, L.; Whitmore, S.; Callen, D.; Gribouval, O.; Broyer, M.; Bates, G.; van't Hoff, W.; Antignac, C.
1998PAK3 mutation in nonsyndromic X-linked mental retardationAllen, K.; Gleeson, J.; Bagrodia, S.; Partington, M.; MacMillan, J.; Cerione, R.; Mulley, J.; Walsh, C.
1998Localisation of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity.Kremmidiotis, G.; Baker, E.; Crawford, J.; Eyre, H.; Nahmias, J.; Callen, D.