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Results 31-40 of 57 (Search time: 0.006 seconds).
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PreviewIssue DateTitleAuthor(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.
1999Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHMFriend, K.; Crimmins, D.; Phan, T.; Sue, C.; Colley, A.; Fung, V.; Morris, J.; Sutherland, G.; Richards, R.
2011Double-stranded RNA is pathogenic in Drosophila models of expanded repeat neurodegenerative diseasesLawlor, K.; O'Keefe, L.; Samaraweera, S.; van Eyk, C.; McLeod, C.; Maloney, C.; Dang, T.; Suter, C.; Richards, R.
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.
2013Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disordersNguyen, L.; Kim, H.; Rosenfeld, J.; Shen, Y.; Gusella, J.; Lacassie, Y.; Layman, L.; Shaffer, L.; Gecz, J.
2012Comparative toxicity of polyglutamine, polyalanine and polyleucine tracts in Drosophila models of expanded repeat diseasevan Eyk, C.; McLeod, C.; O'Keefe, L.; Richards, R.
1997Genetics heterogeneity in familial acute myelogenous leukemia: Evidence for a second locus at chromosome 16q21-23.2Horwitz, M.; Benson, K.; Li, F.Q.; Wolff, J.; Leppert, M.; Hobson, L.; Mangelsdorf, M.; Yu, S.; Hewett, D.; Richards, R.; Raskind, W.
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.