1. Arterial complications in classical Ehlers-Danlos syndrome: a case series. Issue 11 (28th May 2020) Authors: Angwin, Chloe; Brady, Angela F; Pope, F Michael; Vandersteen, Anthony; Baker, Duncan; Cheema, Harveer; Sobey, Glenda; Johnson, Diana; von Klemperer, Kate; Kazkaz, Hanadi; van Dijk, Fleur; Ghali, Neeti Journal: Journal of medical genetics Issue: Volume 57:Issue 11(2020) Page Start: 769 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings. Issue 2 (24th December 2021) Authors: Pickwick, Charlotte; Callewaert, Bert; van Dijk, Fleur; Harris, Juliette; Wakeling, Emma; Hay, Eleanor; Yeo, Mildrid; Chakrapani, Anupam; Baptista, Julia; Moore, Sandra; Yoong, Michael; Chatterjee, Fiona; Ghali, Neeti Journal: Clinical dysmorphology Issue: Volume 31:Issue 2(2022) Page Start: 66 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗