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Author/Creator Jolley, Alexandra

1. De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: A case report and literature review. Issue 6 (6th May 2013)

Authors:
Jolley, Alexandra; Corbett, Mark; McGregor, Lesley; Waters, Wendy; Brown, Susan; Nicholl, Jillian; Yu, Sui
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 6(2013:Jun.)
Page Start:
1508
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Novel protein C gene mutation in a compound heterozygote resulting in catastrophic thrombosis in early adulthood: diagnosis and long‐term treatment with subcutaneous protein C concentrate. (24th June 2015)

Authors:
Boey, Jir P.; Jolley, Alexandra; Nicholls, Catherine; Lerda, Nancy; Duncan, Elizabeth; Gallus, Alexander; Ross, David M.; Sobieraj‐Teague, Magdalena
Journal:
British journal of haematology
Issue:
Volume 172:Number 5(2016)
Page Start:
811
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Phenotypic variation of TTC19‐deficient mitochondrial complex III deficiency: A case report and literature review. (21st April 2015)

Authors:
Mordaunt, Dylan A.; Jolley, Alexandra; Balasubramaniam, Shanti; Thorburn, David R.; Mountford, Hayley S.; Compton, Alison G.; Nicholl, Jillian; Manton, Nicholas; Clark, Damian; Bratkovic, Drago; Friend, Kathryn; Yu, Sui
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 6(2015:Jun.)
Page Start:
1330
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗