1. Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses. Issue 5 (28th March 2019) Authors: Angius, Andrea; Uva, Paolo; Oppo, Manuela; Buers, Insa; Persico, Ivana; Onano, Stefano; Cuccuru, Gianmauro; Van Allen, Margot I.; Hulait, Gurdip; Aubertin, Gudrun; Muntoni, Francesco; Fry, Andrew E.; Annerén, Göran; Stattin, Eva‐Lena; Palomares‐Bralo, María; Santos‐Simarro, Fernando; Cucca, Franc... Journal: Clinical genetics Issue: Volume 95:Issue 5(2019) Page Start: 607 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Integrating Tumor Sequencing Into Clinical Practice for Patients With Mismatch Repair-Deficient Lynch Syndrome Spectrum Cancers. Issue 8 (16th August 2021) Authors: Dixon, Katherine; Asrat, Mary-Jill; Bedard, Angela C.; Binnington, Kristin; Compton, Katie; Cremin, Carol; Heidary, Nili; Lohn, Zoe; Lovick, Niki; McCullum, Mary; Mindlin, Allison; O'Loughlin, Melanie; Petersen, Tammy; Portigal-Todd, Cheryl; Scott, Jenna; St-Martin, Genevieve; Thompson, Jennifer;... Journal: Clinical and translational gastroenterology Issue: Volume 12:Issue 8(2021) Page Start: e00397 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. MG-118 Developing a multidisciplinary fragile X and related conditions clinic in victoria, BC. (4th December 2015) Authors: Perry, Molly; Aubertin, Gudrun; Down, Jonathan Journal: Journal of medical genetics Issue: Volume 52(2015)Supplement 2 Page Start: A7 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗