1. A New Self-Report Quality of Life Questionnaire for Children With Neuromuscular Disorders: Presentation of the Instrument, Rationale for Its Development, and Some Preliminary Results. (February 2014) Authors: Orcesi, Simona; Ariaudo, Giada; Mercuri, Eugenio; Beghi, Ettore; Rezzani, Cristiana; Balottin, Umberto Journal: Journal of child neurology Issue: Volume 29:Number 2(2014:Feb.) Page Start: 167 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. (16th January 2015) Authors: Crow, Yanick J.; Chase, Diana S.; Lowenstein Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella M.A.; Gornall, Hannah L.; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; Abdel‐Hamid, Mohamed S.; Abdel‐Salam, Ghada M.; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Cath... Journal: American journal of medical genetics Issue: Volume 167:Number 2(2015:Feb.) Page Start: 296 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗