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Results 1-10 of 42 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
1995Mechanisms of small ring formation suggested by the molecular characterization of 2 small accessory ring chromosomes derived from chromosome 4Fang, Y.; Eyre, H.; Bohlander, S.; Estop, A.; McPherson, E.; Trager, T.; Riess, O.; Callen, D.
1998A population-based study of abdominal wall defects in South Australia and Western AustraliaByron-Scott, R.; Haan, E.; Chan, A.; Bower, C.; Scott, H.; Clark, K.
1998Transcranial correction of orbital neurofibromatosisSnyder, B.; Hanieh, A.; Trott, J.; David, D.
1999Testisin, a new human serine proteinase expressed by premeiotic testicular germ cells and lost in testicular germ cell tumorsHooper, J.; Nicol, D.; Dickinson, J.; Eyre, H.; Scarman, A.; Normyle, J.; Stuttgen, M.; Douglas, M.; Loveland, K.; Sutherland, G.; Antalis, T.
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.
1996Reduced expression of the interleukin-2-receptor gamma chain on cord blood lymphocytes: relationship to functional immaturity of the neonatal immune responseZola, H.; Fusco, M.; Weedon, H.; Macardle, P.; Ridings, J.; Roberton, D.
1999Homozygotes for FRA16B are normalHocking, T.; Feichtinger, W.; Schmid, M.; Haan, E.; Baker, E.; Sutherland, G.
1997Unbalanced t(4;11)(q32-q23) in a 34-year-old man with manifestations of distal monosomy 11q and trisomy 4q syndromesByatt, S.; Baker, E.; Richards, R.; Roberts, C.; Smith, A.
1998Evaluation of the lysosome-associated membrane protein LAMP-2 as a marker for lysosomal storage disordersHua, C.; Hopwood, J.; Carlsson, S.; Harris, R.; Meikle, P.
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.