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Results 1-10 of 19 (Search time: 0.003 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.
1998Construction of an ~700-kb transcript map around the Familial Mediterranean Fever locus on human chromosome 16p13.3Centola, M.; Chen, X.; Sood, R.; Deng, Z.; Aksentijevich, I.; Blake, T.; Ricke, D.; Chen, X.; Wood, G.; Zaks, N.; Richards, N.; Krizman, D.; Mansfield, E.; Apostolou, S.; Liu, J.; Shafran, N.; Vedula, A.; Hamon, M.; Cercek, A.; Kahan, T.; et al.
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.
1998Human chemokines fractalkine (SCYD1), MDC (SCYA22) and TARC (SCYA17) are clustered on chromosome 16q13.Nomiyama, H.; Imai, T.; Kusuda, J.; Miura, R.; Callen, D.; Yoshie, O.
1998Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2y: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene.Schollen, E.; Pardon, E.; Heykants, L.; Renard, J.P.; Doggett, N.; Callen, D.; Cassiman, J.J.; Matthijs, G.
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.
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.