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Results 1-10 of 14 (Search time: 0.003 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.
2000FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutationsGecz, J.
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.
1995Peroxisomal assembly defects : Clinical, pathological and biochemical findings in two patients belonging to a newly identified complementation groupPoulos, A.; Christodoulou, J.; Chow, C.; Goldblatt, J.; Paton, B.; Orii, T.; Suzuki, Y.; Shimozawa, N.
2000Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant a-N-acetylglocosaminidase and relationship with Sanfilippo phenotype in an attenuated patientYogalingam, G.; Weber, B.; Meehan, J.; Rogers, J.; Hopwood, J.
1998Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 geneGibson, M.; Ellis, S.; Ades, L.; Haan, E.; Cleary, E.
2008Gender specific effects on the actin-remodelling protein Flightless I and TGF-beta 1 contribute to impaired wound healing in aged skinAdams, D.; Studwick, X.; Kopeki, Z.; Hooper-Jones, J.; Matthaei, K.; Campbell, H.; Powell, B.; Cowin, A.
2005Enzyme replacement therapy for Gaucher disease in AustraliaGoldblatt, J.; Szer, J.; Fletcher, J.; McGill, J.; Rowell, J.; Wilson, M.