Browsing by Author Archer, Hayley

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Issue DateTitleAuthor(s)Citation
2007Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.Christodoulou, John; Williamson, Sarah; Archer, Hayley; Bailey, Mark E; Charman, Tony; Clarke, Angus; Colvin, Lyn; de Klerk, Nicholas H.; Evans, Julie; Leonard, Helen; Ravine, David; Sampson, Julian; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthCorrelation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation., Journal of Medical Genetics 2005, vol.44,(2),2007,pp 148-152
2004Mutations Of Cdkl5 Cause A Severe Neurodevelopmental Disorder With Infantile Spasms And Mental Retardation.Bennetts, Bruce; Christodoulou, John; Ellaway, Carolyn; Lahooti, Hooshang; Pelka, G; Tam, Patrick; Watson, Catherine; Weaving, Linda; Williamson, Susan; Archer, Hayley; Clarke, Angus; Evans, Julie; Friend, Kathie L; Gecz, Jozef; Leonard, Helen; McKenzie, Olivia L D; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Nepean Clinical School: Medicine; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child Health; Medicine Faculty OfficeMutations Of Cdkl5 Cause A Severe Neurodevelopmental Disorder With Infantile Spasms And Mental Retardation., American Journal of Human Genetics, vol.75,(N/A),2004,pp 1079-1093
2014De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual DisabilityWilson, Meredith; Archer, Hayley; Canham, Natalie; Carss, Keren J; et al, Various; Firth, Helen; Grozeva, Detelina; Hackett, Anna; Holder, Susan; Park, Soo-Mi; Parker, Michael; Spasic-Boskovic, Olivera; Childrens Hospital Westmead: Paediatrics & Child HealthDe Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability, American Journal of Human Genetics, vol.94, 4, 2014,pp 618-624