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Results 1-10 of 14 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
1998Transcranial correction of orbital neurofibromatosisSnyder, B.; Hanieh, A.; Trott, J.; David, D.
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.
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.
1995Immunoglobulin M capture immunoassay in investigation of coxsackie B5 and B6 outbreaks in South AustraliaGoldwater, P.
1996Characterisation of four novel fibrillin-1 mutations in the Marfan syndromeAdes, L.; Haan, E.; Colley, A.; Richards, R.
1998Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2Scheffer, I.; Phillips, H.; O'Brien, C.; Saling, M.; Wrennall, J.; Wallace, R.; Mulley, J.; Berkovic, S.
1998Autosomal dominant Klippel-Feil anomaly with cleft palateThompson, E.; Haan, E.; Sheffield, L.
1998IgG subclass antibodies to glutamic acid decarboxylase and risk for progression to clinical insulin-dependent diabetesCouper, J.; Harrison, L.; Aldis, J.; Colman, P.; Honeyman, M.; Ferrante, A.
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.