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Results 11-20 of 28 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2000Quality of life of mothers and families caring for preterm infants requiring home oxygen therapy: A brief reportMcLean, A.; Townsend, A.; Clark, J.; Sawyer, M.; Baghurst, P.; Haslam, R.; Whaites, L.
2004Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardationFreude, K.; Hoffmann, K.; Jensen, L.; Delatycki, M.; des Portes, V.; Moser, B.; Hamel, B.; van Bokhoven, H.; Moraine, C.; Fryns, J.; Chelly, J.; Gecz, J.; Lenzner, S.; Kalscheuer, V.; Ropers, H.
2005Sleep-disordered breathing in Prader-Willi syndrome and its association with neurobehavioral abnormalitiesO'Donoghue, F.; Camfferman, D.; Kennedy, J.; Martin, A.; Couper, T.; Lack, L.; Lushington, K.; McEvoy, R.
2002National study of adverse reactions after vaccination with bacille Calmette-GuérinTurnbull, F.; McIntyre, P.; Achat, H.; Wang, H.; Stapledon, R.; Gold, M.; Burgess, M.
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.
2007Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factorAli, A.; Christie, P.; Grigorieva, I.; Harding, B.; Van Esch, H.; Ahmed, S.; Bitner-Glindzicz, M.; Blind, E.; Bloch, C.; Christin, P.; Clayton, P.; Gecz, J.; Gilbert-Dussardier, B.; Guillen-Navarro, E.; Hackett, A.; Halac, I.; Hendy, G.; Lalloo, F.; Mache, C.; Mughal, Z.; et al.
2009Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2Ghalamkarpour, A.; Debauche, C.; Haan, E.; Van Regemorter, N.; Snzajer, Y.; Thomas, D.; Revencu, N.; Gillerot, Y.; Boon, L.; Vikkula, M.
2013Parental perspectives of vaccine safety and experience of adverse events following immunisationParrella, A.; Gold, M.; Marshall, H.; Braunack-Mayer, A.; Baghurst, P.
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.