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Results 71-80 of 112 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
1999Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromesMcDermott, M.; Aksentijevich, I.; Galon, J.; McDermott, E.; Ogunkolade, B.; Centola, M.; Mansfield, E.; Gadina, M.; Karenko, L.; Petterson, T.; McCarthy, J.; Frucht, D.; Aringer, M.; Torosyan, Y.; Teppo, A.M.; Wilson, M.; Karaarslan, H.; Wan, Y.; Todd, I.; Wood, G.; et al.
1996A novel X-linked gene, G4.5. is responsible for Barth SyndromeBione, S.; D'Adamo, P.; Maestrini, E.; Gedeon, A.; Bolhuis, P.; Toniolo, D.
1996Identification of the gene FMR2, associated with FRAXE mental retardationGecz, J.; Gedeon, A.; Sutherland, G.; Mulley, 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.
1998Polymorphic variants within the homeobox gene MSX1: a candidate gene for developmental disorders.Hollway, G.; Mulley, J.
2017Sharing data to build a medical information commons: from Bermuda to the Global AllianceCook-Deegan, R.; Ankeny, R.A.; Jones, K.M.; Chakravarti, A.; Green, E.D.
1996The first gene for an idiopathic epilepsy: A fruitful collaboration of Australian Clinical Research and Molecular GeneticsBerkovic, S.; Mulley, J.
2011Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutationsDibbens, L.; Kneen, R.; Bayly, M.; Heron, S.; Arsov, T.; Damiano, J.; Desai, T.; Gibbs, J.; McKenzie, F.; Mulley, J.; Ronan, A.; Scheffer, I.