1. Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain. Issue 8 (14th March 2016) Authors: Zhang, Stella; Malik Sharif, Saghira; Chen, Ya-Chun; Valente, Enza-Maria; Ahmed, Mushtaq; Sheridan, Eamonn; Bennett, Christopher; Woods, Geoffrey Journal: Journal of medical genetics Issue: Volume 53:Issue 8(2016) Page Start: 533 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. PEHO syndrome – The end point of severe epilepsies. (June 2017) Authors: Chitre, Manali; Bambrough, Bryony; Parker, Alasdair; Woods, Geoffrey Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e76 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension. Issue 21 (21st November 2017) Authors: Hadinnapola, Charaka; Bleda, Marta; Haimel, Matthias; Screaton, Nicholas; Swift, Andrew; Dorfmüller, Peter; Preston, Stephen D.; Southwood, Mark; Hernandez-Sanchez, Jules; Martin, Jennifer; Treacy, Carmen; Yates, Katherine; Bogaard, Harm; Church, Colin; Coghlan, Gerry; Condliffe, Robin; Corris, P... Journal: Circulation Issue: Volume 136:Issue 21(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗