1. Novel PLS3 variants in X‐linked osteoporosis: Exploring bone material properties. Issue 7 (7th May 2018) Authors: Balasubramanian, Meena; Fratzl‐Zelman, Nadja; O'Sullivan, Rory; Bull, Mary; FA Peel, Nicola; Pollitt, Rebecca C; Jones, Rebecca; Milne, Elizabeth; Smith, Kath; Roschger, Paul; Klaushofer, Klaus; Bishop, Nicholas J Journal: American journal of medical genetics Issue: Volume 176:Issue 7(2018) Page Start: 1578 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. P4HB recurrent missense mutation causing Cole-Carpenter syndrome. Issue 3 (20th December 2017) Authors: Balasubramanian, Meena; Padidela, Raja; Pollitt, Rebecca C; Bishop, Nicholas J; Mughal, M Zulf; Offiah, Amaka C; Wagner, Bart E; McCaughey, Janine; Stephens, David J Journal: Journal of medical genetics Issue: Volume 55:Issue 3(2018) Page Start: 158 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗