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Results 11-20 of 20 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2011Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD IHe, H.; Liyanarachchi, S.; Akagi, K.; Nagy, R.; Li, J.; Dietrich, R.; Li, W.; Sebastian, N.; Wen, B.; Xin, B.; Singh, J.; Yan, P.; Alder, H.; Haan, E.; Wieczorek, D.; Albrecht, B.; Puffenberger, E.; Wang, H.; Westman, J.; Padgett, R.; et al.
2011Congenital and neonatal varicella: impact of the national varicella vaccination programme in AustraliaKhandaker, G.; Marshall, H.; Peadon, E.; Zurynski, Y.; Burgner, D.; Buttery, J.; Gold, M.; Nissen, M.; Elliott, E.; Burgess, M.; Booy, R.
2011Screening patients referred to a metabolic clinic for lysosomal storage disordersFuller, M.; Tucker, J.; Lang, D.; Dean, C.; Fietz, M.; Meikle, P.; Hopwood, J.
2011De novo SCN1A mutations in migrating partial seizures of infancyCarranza Rojo, D.; Hamiwka, L.; McMahon, J.; Dibbens, L.; Arsov, T.; Suls, A.; Stodberg, T.; Kelley, K.; Wirrell, E.; Appleton, B.; Mackay, M.; Freeman, J.; Yendle, S.; Berkovic, S.; Bienvenu, T.; De Jonghe, P.; Thorburn, D.; Mulley, J.; Mefford, H.; Scheffer, I.
2011Short stature due to 15q26 microdeletion involving IGF1R: report of an additional case and review of the literatureRudaks, L.; Nicholl, J.; Bratkovic, D.; Barnett, C.
20114-aminobutyrate aminotrasferase (ABAT): genetic and pharmacological evidence for an involvement in gastro esophageal reflux diseaseJirholt, J.; Asling, B.; Hammond, P.; Davidson, G.; Knutsson, M.; Walentinsson, A.; Jensen, J.; Lehmann, A.; Agreus, L.; Lagerstrom-Fermer, M.; Dubé, M.-P.
2011Zinc homeostasis and gut function in children with celiac diseaseTran, C.; Katsikeros, R.; Manton, N.; Krebs, N.; Hambidge, M.; Butler, R.; Davidson, G.
2011Maternal supplementation with docosahexaenoic acid during pregnancy does not affect early visual development in the infant: A randomized controlled trialSmithers, L.; Gibson, R.; Makrides, M.
2011Valuing child health utility 9D health states with a young adolescent sample: A feasibility study to compare best-worst scaling discrete-choice experiment, standard gamble and time trade-off methodsRatcliffe, J.; Couzner, L.; Flynn, T.; Sawyer, M.; Stevens, K.; Brazier, J.; Burgess, L.
2011Investigating outcomes following the use of selective serotonin reuptake Inhibitors for treating depression in pregnancy a focus on methodological issuesGrzeskowiak, L.; Gilbert, A.; Morrison, J.