1. 136 Beyond the Aorta: Experiences of Neurovascular Imaging in Loeys-dietz and Vascular Ehlers Danlos Syndrome. (3rd June 2016) Authors: Smith, Carolyn; Mehta, Sarju; Burrows, Nigel; Martin, Peter; Rusk, Rosemary Journal: Heart Issue: Volume 102(2016)Supplement 6 Page Start: A97 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cervical artery dissection and iliac artery aneurysm in an SMAD-4 mutation carrier. (October 2017) Authors: Wiener, Emmanuel; Martin, Peter; Mehta, Sarju; Markus, Hugh Stephen Journal: Neurology Issue: Volume 3:Number 5(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. (January 2018) Authors: Moortgat, Stéphanie; Berland, Siren; Aukrust, Ingvild; Maystadt, Isabelle; Baker, Laura; Benoit, Valerie; Caro-Llopis, Alfonso; Cooper, Nicola; Debray, François-Guillaume; Faivre, Laurence; Gardeitchik, Thatjana; Haukanes, Bjørn; Houge, Gunnar; Kivuva, Emma; Martinez, Francisco; Mehta, Sarju; Nas... Journal: European journal of human genetics Issue: Volume 26:Number 1(2018) Page Start: 64 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗