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Results 11-20 of 23 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2007An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlationUpadyaya, M.; Huson, S.; Davies, M.; Thomas, N.; Chuzhanova, N.; Giovannini, S.; Evans, D.; Howard, E.; Kerr, B.; Kerr, B.; Consoli, C.; Side, L.; Adams, D.; Pierpont, M.; Hatchen, R.; Barnicoat, A.; Li, H.; Wallace, P.; Van Biervliet, J.; Stevenson, D.; et al.
2002National study of adverse reactions after vaccination with bacille Calmette-GuérinTurnbull, F.; McIntyre, P.; Achat, H.; Wang, H.; Stapledon, R.; Gold, M.; Burgess, M.
2013Parental perspectives of vaccine safety and experience of adverse events following immunisationParrella, A.; Gold, M.; Marshall, H.; Braunack-Mayer, A.; Baghurst, P.
2003Acute lymphoblastic leukemia characterized by t(8;14)(q11.2;q32)Moore, S.; Suttle, J.; Bain, S.; Story, C.; Rice, M.
1997The spectrum of primary immundeficiency disorders in AustraliaBaumgart, K.; Britton, W.; Kemp, A.; French, M.; Roberton, D.
2000Analysis of the breath hydrogen test for carbohydrate malabsorption: Validation of a pocket-sized breath test analysierLee, W.; Davidson, G.; Moore, D.; Butler, R.
2005Enzyme replacement therapy for Gaucher disease in AustraliaGoldblatt, J.; Szer, J.; Fletcher, J.; McGill, J.; Rowell, J.; Wilson, M.
2005The Hunter-McAlpine syndrome results from duplication 5q35-qterHunter, A.; DuPont, B.; McLaughlin, M.; Hinton, L.; Baker, E.; Ades, L.; Haan, E.; Schwartz, C.
2012Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): A new autosomal dominant syndromeWorthley, D.; Phillips, K.; Wayte, N.; Schrader, K.; Healey, S.; Kaurah, P.; Shulkes, A.; Grimpen, F.; Clouston, A.; Moore, D.; Cullen, D.; Ormonde, D.; Mounkley, D.; Wen, X.; Lindor, N.; Carniero, F.; Huntsman, D.; Chenevix-Trench, G.; Suthers, G.
2007Unravelling the molecular control of calvarial suture fusion in children with craniosynostosisCoussens, A.; Wilkinson, C.; Hughes, I.; Morris, C.; Van Daal, A.; Anderson, P.; Powell, B.