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Results 11-20 of 155 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2007Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitusRaymond, F.; Tarpey, P.; Edkins, S.; Tofts, C.; O'Meara, S.; Teague, J.; Butler, A.; Stevens, C.; Barthorpe, S.; Buck, G.; Cole, J.; Dicks, E.; Gray, K.; Harrison, R.; Hills, K.; Hinton, J.; Jones, D.; Menzies, A.; Perry, J.; Raine, K.; et al.
2002Biochemical and molecular analysis of mucopolysaccharidoses in TurkeyEmre, S.; Terzioglu, M.; Coskun, T.; Tokatli, A.; Ozalp, I.; Muller, V.; Hopwood, J.
2005A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey Disease) expands the spectrum of collagen-related disordersGensure, R.; Makitie, O.; Barclay, C.; Chan, C.; DePalma, S.; Bastepe, M.; Abuzahra, H.; Couper, R.; Mundlos, S.; Sillence, D.; Kokko, L.; Seidman, J.; Cole, W.; Juppner, H.
2004Reproductive performance in female ClockΔ19 mutant miceKennaway, D.; Boden, M.; Voultsios, A.
2001Bovine spongiform encephalopathy and variant Creutzfeldt-Jakob disease: implications for AustraliaGoldwater, P.
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.
2001Impaired thrombin generation in b2-glycoprotein I null miceSheng, Y.; Reddel, S.; Herzog, H.; Wang, Y.; Brighton, T.; France, M.; Robertson, S.; Krilis, S.
1998Identification of a common mutation (R245h) in Sanfilippo A patients from the NetherlandsWeber, B.; Vandekamp, J.; Kleijer, W.; Guo, X.H.; Blanch, L.; van Diggelen, O.; Wevers, R.; Poorthuis, B.; Hopwood, J.
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.
1997Mutations among Italian mucopolysaccharidosis Type I patientsGatti, R.; Di Natale, P.; Villani, G.; Filocamo, M.; Muller, V.; Guo, X.H.; Nelson, P.; Scott, H.; Hopwood, J.