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PreviewIssue DateTitleAuthor(s)
1997A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndromeMuenke, M.; Gripp, K.; McDonald-McGinn, D.; Gaudenz, K.; Whitaker, L.; Bartlett, S.; Markowitz, R.; Robin, N.; Nwokoro, N.; Mulvihill, J.; Losken, H.; Mulliken, J.; Guttmacher, A.; Wilroy, R.; Clarke, L.; Hollway, G.; Ades, L.; Haan, E.; Mulley, J.; Cohen, M.; et al.
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.
1997Tandem balloon dilatation for childhood achalasiaHammond, P.; Moore, D.; Davidson, G.; Davies, R.
1997Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 geneSampson, J.; Maheshwar, M.; Aspinwall, R.; Thompson, P.; Cheadle, J.; Ravine, D.; Roy, S.; Haan, E.; Bernstein, J.; Harris, P.
1997The spectrum of primary immundeficiency disorders in AustraliaBaumgart, K.; Britton, W.; Kemp, A.; French, M.; Roberton, D.
1997Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomySmith, A.; Marks, R.; Haan, E.; Dixon, J.; Trent, R.
1997Power spectral analysis of heart rate variability in children and adolescents with IDDMWawryk, A.; Bates, D.; Couper, J.
1997Progression of borderline increases in albuminuria in adolescents with insulin-dependent Diabetes MellitusCouper, J.; Clarke, C.; Byrne, G.; Jones, T.; Donaghue, K.; Nairn, J.; Boyce, D.; Russell, M.; Stephens, M.; Raymond, J.; Bates, D.; McCaul, K.
1997Human mucopolysaccharidosis IIID: clinical, biochemical, morphological and immunohistochemical characteristicsJones, M.; Alroy, J.; Rutledge, J.; Taylor, J.; Alvord Jnr., E.; Toone, J.; Applegarth, D.; Hopwood, J.; Skutelsky, E.; Ianelli, C.; Thorley Lawson, D.; Mitchell Herpolsheimer, C.; Arias, A.; Sharp, P.; Evans, W.; Sillence, D.; Cavanagh, K.