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Results 1-10 of 25 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2008X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairmentDibbens, L.; Tarpey, P.; Hynes, K.; Bayly, M.; Scheffer, I.; Smith, R.; Bomar, J.; Sutton, E.; Vandeleur, L.; Shoubridge, C.; Edkins, S.; Turner, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Jones, D.; et al.
2017Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signallingHughes, J.; Dawson, R.; Tea, M.; McAninch, D.; Piltz, S.; Jackson, D.; Stewart, L.; Ricos, M.; Dibbens, L.; Harvey, N.; Thomas, P.
2017Targeted insertion of an anti-CD2 monoclonal antibody transgene into the GGTA1 locus in pigs using FokI-dCas9Nottle, M.; Salvaris, E.; Fisicaro, N.; McIlfatrick, S.; Vassiliev, I.; Hawthorne, W.; O'Connell, P.; Brady, J.; Lew, A.; Cowan, P.
1998Recombinant human sulphamidase: expression, amplification, purification and characterizationBielicki, J.; Hopwood, J.; Melville, E.; Anson, D.
1995Expression, purification and characterization of recombinant human N-acetylgalactosamine-6-sulphataseBielicki, J.; Fuller, M.; Guo, X.H.; Morris, C.; Hopwood, J.; Anson, D.
2004Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapyKarageorgos, L.; Harmatz, P.; Simon, J.; Pollard, A.; Clements, P.; Brooks, D.; Hopwood, J.
2004Identification and molecular characterization of α-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapyYogalingam, G.; Guo, X.; Muller, V.; Brooks, D.; Clements, P.; Kakkis, E.; Hopwood, J.
1999Metabolism of trideuterated iso-lignoceric acid in rats in vivo and in human fibroblasts in culturePoulos, A.; Stockham, P.; Johnson, D.; Paton, B.; Beckman, K.; Singh, H.
2004Purification and characterization of recombinant murine sulfamidaseGliddon, B.; Yogalingam, G.; Hopwood, J.
2006Nance-Horan syndrome protein, NHS, associates with epithelial cell junctionsSharma, S.; Ang, S.; Shaw, M.; Mackey, D.; Gecz, J.; McAvoy, J.; Craig, J.

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