Browsing by Author Kerr, Alison

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Issue DateTitleAuthor(s)Citation
2005Early onset seizures and Rett-like features associated with mutations in CDKL5.Christodoulou, John; Archer, Hayley L; Colley, James P; et, al; Evans, Julie C; Gecz, Jozef; Jardine, Philip E; Kerr, Alison; Nielsen, Jytte Bieber; Ravn, Kirstine; Williams, Elizabeth; Children's Hospital Westmead: Paediatrics & Child HealthEarly onset seizures and Rett-like features associated with mutations in CDKL5., European Journal of Human Genetics (2005), vol.13,(10),2005,pp 1113-20
2001Guidelines for reporting clinical features in cases with MECP2 mutationsChristodoulou, John; Ellaway, Carolyn; Amstrong, D; Anvret, M; Belichenko,, P; Budden, S; Cass, H; Clarke, A.; d'Esposito,, M; et, al; Kerr, Alison; Nomura, Y; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthGuidelines for reporting clinical features in cases with MECP2 mutations, Brain and Development, vol.23, 4,pp 208-211
2006NTNG1 mutations are a rare cause of Rett syndrome.Christodoulou, John; Ravine, David; Archer, Hayley L.; Clarke, Angus; Evans, Julie C; Grove, Lucy; Kerr, Alison; Lazarou, Lazarus; Leonard, Helen; Millar, David S.; Pilz, Daniela T; Sampson, Julien; Thompson, Peter W.; Verity, Christopher; Whatley, Sharon; Children's Hospital Westmead: Paediatrics & Child Health; Medicine Faculty OfficeNTNG1 mutations are a rare cause of Rett syndrome., American journal of medical genetics Part A, vol.140A,(7),2006,pp 691-694
2005p.R270X MECP2 mutation and mortality in Rett syndromeChristodoulou, John; Archer, Hayley L.; Bailey, Mark E.S.; de Klerk, Nick; Jian, Le; Kerr, Alison; Laurvick, Crystal; Leonard, Helen; Ravine, David; Children's Hospital Westmead: Paediatrics & Child Healthp.R270X MECP2 mutation and mortality in Rett syndrome, European Journal of Human Genetics (2005), vol.13,(11),2005,pp 1235-1238