Browsing by Author Hackett, A

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Issue DateTitleAuthor(s)Citation
201314q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotypeChristodoulou, John; Collins, Felicity; Ellaway, Carolyn; Ho, Gladys; Peters, Gregory; Bettella, Elise; Darmanian, Artur; Fagan, Kerry; Hackett, A; Knapman, Alisa; McKenzie, Fiona; 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 Health; Children's Hospital Westmead: Paediatrics & Child Health14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype, European Journal of Human Genetics, vol.21, 5, 2013,pp 522-527
2010CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypesGrigg, John; Wilson, Meredith; Boyle, Jackie; Cox, James; et al, various; Hackett, A; Licata, Andrea; Partington, Michael; Rogers, Carolyn; Stevenson, Roger; Tarpey, Patrick; Tolmie, John; Whibley, Annabel; Central Clinical School: Clinical Ophthal & Eye Health; Children's Hospital Westmead: Paediatrics & Child HealthCASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes, European Journal of Human Genetics, vol.18, 5,pp 544-552
2008n of 1 trial for an ornithine transcarbamylase deficiency carrierWilcken, Bridget; Gillard, J; Hackett, A; Children's Hospital Westmead: Paediatrics & Child Healthn of 1 trial for an ornithine transcarbamylase deficiency carrier, Molecular Genetics and Metabolism (2005), vol.94,(2),2008,pp 157-161
2012Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability.Gamble, Jennifer; Chan, W.; et al, Various; Field, M; Hackett, A; Huang, Liqiang; Jolly, L; Laumonnier, F; Nguyen, L; Raynaud, M; Rodriguez, J; Shoubridge, C; Central Clinical School: Centenary InstituteTranscriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability., Molecular Psychiatry, vol.17, 11, 2012,pp 1103-1115