1. Activation of an exonic splice‐donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities. Issue 10 (23rd August 2016) Authors: Pagnamenta, Alistair T.; Howard, Malcolm F.; Knight, Samantha J. L.; Keays, David A.; Quaghebeur, Gerardine; Taylor, Jenny C.; Kini, Usha Journal: Clinical case reports Issue: Volume 4:Issue 10(2016) Page Start: 952 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Comatose patients smelling of alcohol: Authors' reply. Issue 6702 (23rd September 1989) Authors: Richards, Peter; Quaghebeur, Gerardine Journal: BMJ Issue: Volume 299:Issue 6702(1989) Page Start: 790 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations. (10th January 2017) Authors: Liao, Chunyan; Ashley, Neil; Diot, Alan; Morten, Karl; Phadwal, Kanchan; Williams, Andrew; Fearnley, Ian; Rosser, Lyndon; Lowndes, Jo; Fratter, Carl; Ferguson, David J.P.; Vay, Laura; Quaghebeur, Gerardine; Moroni, Isabella; Bianchi, Stefania; Lamperti, Costanza; Downes, Susan M.; Sitarz, Kamil S... Journal: Neurology Issue: Volume 88:Number 2(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations. (10th January 2017) Authors: Liao, Chunyan; Ashley, Neil; Diot, Alan; Morten, Karl; Phadwal, Kanchan; Williams, Andrew; Fearnley, Ian; Rosser, Lyndon; Lowndes, Jo; Fratter, Carl; Ferguson, David J.P.; Vay, Laura; Quaghebeur, Gerardine; Moroni, Isabella; Bianchi, Stefania; Lamperti, Costanza; Downes, Susan M.; Sitarz, Kamil S... Journal: Neurology Issue: Volume 88:Number 2(2017) Page Start: 131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Neuroimaging findings of babies with microcephaly and presumed congenital Zika virus infection. (15th April 2016) Authors: Baptista, Tiago; Quaghebeur, Gerardine; Alarcon, Ana Journal: BMJ Issue: Volume 353(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations. Issue 12 (18th September 2013) Authors: Kastrissianakis, Katherina; Anand, Geetha; Quaghebeur, Gerardine; Price, Sue; Prabhakar, Prab; Marinova, Jasmina; Brown, Garry; McShane, Tony Journal: Archives of disease in childhood Issue: Volume 98:Issue 12(2013) Page Start: 1004 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗