Browsing by Author McGill, Jim

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Issue DateTitleAuthor(s)Citation
2010Developmental milestones in infants and young Australasian children with achondroplasiaSillence, David; Ault, Jenny E.; Donaghey, Samantha; et al, various; Ireland, Penelope; Johnson, Leanne; Johnson, Sarah; McGill, Jim; Pacey, Verity; Ware, Robert S; Zankl, Andreas; Children's Hospital Westmead: Paediatrics & Child HealthDevelopmental milestones in infants and young Australasian children with achondroplasia, Journal of Developmental and Behavioral Pediatrics, vol.31, 1,pp 41-47
2011Enzyme replacement therapy "drug holiday": Results from an unexpected shortage of an orphan drug supply in AustraliaWilson, Meredith; Fletcher, Janice; Goldblatt, Jack; McGill, Jim; Szer, Jeffrey; Children's Hospital Westmead: Paediatrics & Child HealthEnzyme replacement therapy "drug holiday": Results from an unexpected shortage of an orphan drug supply in Australia, Blood Cells, Molecules and Diseases, vol.46, 1, 2011,pp 107-110
2009Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 YearsCarpenter, Kevin; Christodoulou, John; Ellaway, Carolyn; Wilcken, Bridget; Wiley, Veronica; Bowling, Francis; Cowley, David; Fletcher, Janice; Haas, Marion; Joy, Pamela; Kirk, E. P. E.; Lewis, Barry; McGill, Jim; Peters, Heidi; Pitt, James; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthExpanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years, Pediatrics, vol.124, 2,pp e241-e248
2002The molecular basis of cystathionine Beta-synthase deficiency in Australian patients: Genotype-Phenotype correlations and response to treatmentWilcken, Bridget; Fletcher, Janice; Gaustadnes, Mette; Kraus, Jan P.; McGill, Jim; Oliveriusova, Jana; Wilcken, David E.; Children's Hospital Westmead: Paediatrics & Child HealthThe molecular basis of cystathionine Beta-synthase deficiency in Australian patients: Genotype-Phenotype correlations and response to treatment, Human Mutation, vol.20,(2),2002,pp 117-126
2010The natural history and osteodystrophy of mucolipidosis types II and IIIMunns, Craig; Sillence, David; Alcausin, Melanie; Ault, Jenny E.; Briody, Julie N.; Cathey, Sara; David-Vizcarra, Grace; Edwards, Matthew J.; Fietz, M.; Fletcher, Janice; McGill, Jim; Savarirayan, Ravi; Wilson, Meredith J.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthThe natural history and osteodystrophy of mucolipidosis types II and III, Journal of Paediatrics and Child Health, vol.46, 6, 2010,pp 316-322
2007Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort studyBlack, Carly; Joy, Pamela; Wilcken, Bridget; Wiley, Veronica; Boneh, Avihu; Chaplin, Meredyth; Fletcher, Janice; Haas, Marion; McGill, Jim; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthOutcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study, The Lancet, vol.369,(9555),2007,pp 37-42