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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.
2000FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutationsGecz, J.
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.
2000Carbohydrate-deficient glycoprotein syndrome: Beyond the screenFletcher, J.; Matthijs, G.; Jaeken, J.; Van Schaftingen, E.; Nelson, P.
1996Clinicopathologic features of congenital aneurysms of the great vesselsAdes, L.; Knight, W.; Byard, R.; Bateman, J.; Esquivel, J.; Mee, R.; Haan, E.; Milewicz, D.
1998Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotypeYamada, N.; Fukuda, S.; Tomatsu, S.; Muller, V.; Hopwood, J.; Nelson, J.; Kato, Z.; Yamagishi, A.; Sukegawa, K.; Kondo, M.; Orii, T.
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.
1997Identification of 16 Sulfamidase Gene Mutations Including the Common R74C in Patients With Mucopolysaccharidosis Type IIIa (Sanfilippo A)Bunge, S.; Ince, H.; Steglich, C.; Kleijer, W.; Beck, M.; Zaremba, J.; van Diggelen, O.; Weber, B.; Hopwood, J.; Gal, A.