Search

Author/Creator Archer, Hayley

2. Correlation 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. Issue 2 (11th August 2006)

Authors:
Archer, Hayley; Evans, Julie; Leonard, Helen; Colvin, Lyn; Ravine, David; Christodoulou, John; Williamson, Sarah; Charman, Tony; Bailey, Mark E S; Sampson, Julian; de Klerk, Nicholas; Clarke, Angus
Journal:
Journal of medical genetics
Issue:
Volume 44:Issue 2(2007)
Page Start:
148
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. Issue 1 (December 2016)

Authors:
Fry, Andrew; Rees, Elliott; Thompson, Rose; Mantripragada, Kiran; Blake, Penny; Jones, Glyn; Morgan, Sian; Jose, Sian; Mugalaasi, Hood; Archer, Hayley; McCann, Emma; Clarke, Angus; Taylor, Clare; Davies, Sally; Gibbon, Frances; Te Water Naude, Johann; Hartley, Louise; Thomas, Gareth; White, Catha...
Journal:
BMC medical genetics
Issue:
Volume 17:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗