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Results 21-29 of 29 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2002Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndromeLower, K.; Turner, G.; Kerr, B.; Mathews, K.; Shaw, M.; Gedeon, A.; Schelley, S.; Hoyme, H.; White, S.; Delatycki, M.; Lampe, A.; Clayton-Smith, J.; Stewart, H.; van Ravenswaay, C.; de Vries, B.; Cox, B.; Grompe, M.; Ross, S.; Thomas, P.; Mulley, J.; et al.
2002Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsyStromme, P.; Mangelsdorf, M.; Shaw, M.; Lower, K.; Lewis, S.; Bruyere, H.; Lutcherath, V.; Gedeon, A.; Wallace, R.; Scheffer, I.; Turner, G.; Partington, M.; Frints, S.; Fryns, J.; Sutherland, G.; Mulley, J.; Gecz, J.
2007Protein and gene expression analysis of Phf6, the gene mutated in the Borjeson-Forssman-Lehmann Syndrome of intellectual disability and obesityVoss, A.; Gamble, R.; Collin, C.; Shoubridge, C.; Corbett, M.; Gecz, J.; Thomas, T.
2008Platypus Pou5f1 reveals the first steps in the evolution of trophectoderm differentiation and pluripotency in mammalsNiwa, H.; Sekita, Y.; Tsend-Ayush, E.; Grutzner, F.
2001Characterization of Saa, a novel autoagglutinating adhesin produced by locus of enterocyte effacement-negative shiga-toxigenic Escherichia coli strains that are virulent for humansPaton, A.; Srimanote, P.; Woodrow, M.; Paton, J.; O'Brien, A.D.
2008Alanine scanning of a putative receptor binding surface of insulin-like growth factor-IGauguin, L.; Delaine, C.; Alvino, C.; McNeil, K.; Wallace, J.; Forbes, B.; De Meyts, P.
2011NeuN/Rbfox3 nuclear and cytoplasmic isoforms differentially regulate alternative splicing and nonsense-mediated decay of Rbfox2Dredge, B.; Jensen, K.; Valcarcel, J.
2001Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia proteinKremmidiotis, G.; Gardner, A.; Settasatian, C.; Savoia, A.; Sutherland, G.; Callen, D.
2002Complementation of a yeast CYC3 deficiency identifies an X-linked mammalian activator of apocytochrome cSchwarz, Q.; Cox, T.