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Results 21-30 of 84 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2010Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndromeGecz, J.
2008Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental RetardationMolinari, F.; Foulquier, F.; Tarpey, P.; Morelle, W.; Boissel, S.; Teague, J.; Edkins, S.; Futreal, P.; Stratton, M.; Turner, G.; Matthijs, G.; Gecz, J.; Munnich, A.; Colleaux, L.
1995Gene duplication of the human peptide YY gene (PYY) generated the pancreatic polypeptide gene (PPY) on chromosome 17q21.1Hort, Y.; Baker, E.; Sutherland, G.; Shine, J.; Herzog, H.
2001MUC13, a novel human cell surface mucin expressed by epithelial and hemopoietic cellsWilliams, S.; Wreschner, D.; Tran, M.; Eyre, H.; Sutherland, G.; McGuckin, M.
2007Mutations in CUL4B which encodes a ubiquitin E3 ligase subunit cause an X-linked mental retardation syndrome associated with aggressive outbursts seizures relative macrocephaly central obesity hypogonadism pes cavus and tremorTarpey, P.; Raymond, F.; O'Meara, S.; Edkins, S.; Teague, J.; Butler, A.; Dicks, E.; Stevens, C.; Tofts, C.; Avis, T.; Barthorpe, S.; Buck, G.; Cole, J.; Gray, K.; Halliday, K.; Harrison, R.; Hills, K.; Jenkinson, A.; Jones, D.; Menzies, A.; et al.
1999Myeloid DAP12-associating lectin (MDL)-1 is a cell surface receptor involved in the activation of myeloid cellsBaker, E.; Sutherland, G.; Phillips, J.; Lanier, L.
2001Identification of a novel human tankyrase through its interaction with the adaptor protein Grb14Lyons, R.; Deane, R.; Lynch, D.; Ye, Z.; Sanderson, G.; Eyre, H.; Sutherland, G.; Daly, R.
2004Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardationTao, J.; Van Esch, H.; Hagedorn-Greiwe, M.; Hoffmann, K.; Moser, B.; Raynaud, M.; Sperner, J.; Fryns, J.; Schwinger, E.; Gecz, J.; Ropers, H.; Kalscheuer, V.
2009Identification and characterization of Ambroxol as an enzyme enhancement agent for Gaucher DiseaseMaegawa, G.; Tropak, M.; Buttner, J.; Rigat, B.; Fuller, M.; Pandit, D.; Tang, L.; Kornhaber, G.; Hamuro, Y.; Clarke, J.; Mahuran, D.
2004HLS5, a novel RBCC (ring finger, B box, coiled-coil) family member isolated from a hemopoietic lineage switch, is a candidate tumor suppressorLalonde, J.; Lim, R.; Ingley, E.; Tilbrook, P.; Thompson, M.; McCulloch, R.; Beaumont, J.; Wicking, C.; Eyre, H.; Sutherland, G.; Howe, K.; Solomon, E.; Williams, J.; Klinken, S.