Browsing by Author Colvin, Lyn

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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
2003Describing the phenotype in Rett syndrome using a population database.Christodoulou, John; Ellaway, Carolyn; Colvin, Lyn; de Klerk, Nicholas H.; Fyfe, Susan; Leonard, Helen; Leonard, S; Msall, M.; Schiavello, T.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthDescribing the phenotype in Rett syndrome using a population database., Archives of Disease in Childhood, vol.88,(1),2003,pp 38-43
2005Health service use in Rett syndrome.Christodoulou, John; Weaving, Linda; Colvin, Lyn; Davis, Mark; de Klerk, Nick; Fyfe, Susan; Leonard, Helen; Moore, Hannah; Mulroy, Seonaid; Robertson, ID; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthHealth service use in Rett syndrome., Journal of child neurology, vol.20,(1),2005,pp 42-50
2003Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?Christodoulou, John; Clarke, A.; Colvin, Lyn; Davis, Mark; de Klerk, Nicholas H.; Fyfe, Susan; Hackwell, S.; Kondo, I.; Leonard, H.; Matsuishi, T.; Ravine, D.; Schiavello, T.; Williamson, Sarah L; Yamashita, Y.; Children's Hospital Westmead: Paediatrics & Child HealthPatients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?, Journal of Medical Genetics, vol.40,(e52),2003,pp 1-7