Browsing by Author Williamson, Sarah

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:  
Showing results 1 to 7 of 7
Issue DateTitleAuthor(s)Citation
2002Allogeneic bone marrow transplantation: cure for familial Mediterranean feverBennetts, Bruce; Christodoulou, John; Curtin, Julie; Shaw, Peter; Mansour, Albert; Milledge, John; Roscioli, Tony; Williamson, Sarah; 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 HealthAllogeneic bone marrow transplantation: cure for familial Mediterranean fever, Blood, vol.100,(3),2002,pp 774-777
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
2007Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male probandBennetts, Bruce; Christodoulou, John; Slater, Katrina; Vasudevan, V; Williamson, Sarah; Bebbinton, Ami; Cloosterman, Desiree; Donald, Jennifer; Hardwick, Simon A; Leonard, Helen; Reuter, Kirsten; Smith, Robert; Williams, Simon R.; 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: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child HealthDelineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband, European Journal of Human Genetics (2005), vol.15,(12),2007,pp 1218-1229
2006Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.Christodoulou, John; Vasudevan, V; Williamson, Sarah; de Lagarde, D.; Leonard, Helen; Macleod, P.; Ravine, David; Saxena, Alka; Thompson, Elizabeth M.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child HealthLost in translation: translational interference from a recurrent mutation in exon 1 of MECP2., Journal of Medical Genetics 2005, vol.43,(6),2006,pp 470-477
2006Predictors of seizure onset in Rett syndrome.Christodoulou, John; Williamson, Sarah; Anderson, Alison; Bower, Carolyn; de Klerk, Nicholas H.; Jian, Le; Leonard, Helen; Nagarajan, Lakshmi; Ravine, David; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthPredictors of seizure onset in Rett syndrome., The Journal of Pediatrics, vol.149,(4),2006,pp 542-547
2006Rett syndrome in Australia: A review of the epidemiology.Christodoulou, John; Ellaway, Carolyn; Williamson, Sarah; Bower, Carolyn; de Klerk, Nick; Laurvick, Crystal; Leonard, Helen; Ravine, David; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthRett syndrome in Australia: A review of the epidemiology., The Journal of Pediatrics, vol.148,(3),2006,pp 347-352
2006Rett syndrome: new clinical and molecular insights.Christodoulou, John; Williamson, Sarah; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthRett syndrome: new clinical and molecular insights., European Journal of Human Genetics (2005), vol.14,(8),2006,pp 896-903