Browsing by Author Kirk, E. P. E.

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Issue DateTitleAuthor(s)Citation
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
2010GATA4 Mutations in 357 Unrelated Patients with Congenital Heart MalformationButler, Tanya; Sholler, Gary; Winlaw, David; Blue, Gillian; Cole, Andrew; Costa, Mauro; Esposito, Giorgia; Feneley, Michael; Harvey, Richard P; Kirk, E. P. E.; Waddell, Leigh; Walizada, Gina; Children's Hospital Westmead: Paediatrics & Child Health; Medical Radiation Sciences; Children's Hospital Westmead: Paediatrics & Child HealthGATA4 Mutations in 357 Unrelated Patients with Congenital Heart Malformation, Genetic Testing and Molecular Biomarkers, vol.14, 6,pp 1-6
2002Germline mutation of the tumour suppressor PTEN in Proteus syndromeMarsh, Deborah; Brereton, J. J.; Field, M.; Kirk, E. P. E.; Marshall, Glenn M.; Rogers, M; Smith, J. M.; Theodosopoulos, G.; Walker, J.; Northern Clinical School: Kolling InstituteGermline mutation of the tumour suppressor PTEN in Proteus syndrome, Journal of Medical Genetics, vol.39,(N/A),2002,pp 937-940
2005OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria.Bennetts, Bruce; Christodoulou, John; Baric, I.; Carpenter, K.; Kelley, R.; Kirk, E. P. E.; Neas, K.; White, R.; Wilson, Meredith; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthOPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria., Journal of inherited metabolic disease, vol.28,(4),2005,pp 525-532
2009Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndromePeters, Gregory; Widmer, Richard; Aftimos, Salim; Darmanian, Artur; et al, various; Ghedia, S; Kirk, E. P. E.; Love, Donald; Ronan, A; Susman, Rachel D.; Tan, T; Wilson, Meredith J.; Worgan, L; Children's Hospital Westmead: Paediatrics & Child Health; Dentistry FacultyPhenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome, Journal of Medical Genetics, vol.46, 7,pp 480-489
2012QTL mapping of complex binary traits in an advanced intercross lineMartin, Ian; Moran, Christopher; Thomson, Peter; Harvey, R; Kirk, E. P. E.; Marjaneh, Mahdi; Vet Science Faculty; Vet Science Faculty; Vet Science FacultyQTL mapping of complex binary traits in an advanced intercross line, Animal Genetics, vol.43, Suppl. 1, 2012,pp 97-101
2008Rapamycin treatment for a child with germline PTEN mutationBaxter, Robert; Chee, Wey; Marsh, Deborah; Martin, Janet; Kirk, E. P. E.; Marshall, Glenn M.; Trahair, Toby N; Walker, J.; Northern Clinical School: Kolling Institute; Northern Clinical School: Kolling Institute; Northern Clinical School: Kolling Institute; Northern Clinical School: Kolling InstituteRapamycin treatment for a child with germline PTEN mutation, Nature Clinical Practice Oncology, vol.5,(6),2008,pp 357-361
2011Somatic Mutations in NKX2-5, GATA4, and HAND1 Are Not a Common Cause of Tetralogy of Fallot or Hypoplastic Left HeartBlue, Gillian; Butler, Tanya; Sholler, Gary; Winlaw, David; Cole, Andrew; Esposito, Giorgia; Grossfeld, Paul; Harvey, Richard P; Kirk, E. P. E.; Perryman, Benjamin; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child HealthSomatic Mutations in NKX2-5, GATA4, and HAND1 Are Not a Common Cause of Tetralogy of Fallot or Hypoplastic Left Heart, American Journal of Medical Genetics. Part A, vol.155, 10, 2011,pp 2416-2421