1. From genetic variation to precision medicine. (24th January 2023) Authors: Sergouniotis, Panagiotis I.; Fitzgerald, Tomas; Birney, Ewan Journal: Cambridge prisms Issue: Volume 1(2023) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia. Issue 3 (28th January 2011) Authors: Nik-Zainal, Serena; Strick, Reiner; Storer, Mekayla; Huang, Ni; Rad, Roland; Willatt, Lionel; Fitzgerald, Tomas; Martin, Vicki; Sandford, Richard; Carter, Nigel P; Janecke, Andreas R; Renner, Stefan P; Oppelt, Patricia G; Oppelt, Peter; Schulze, Christine; Brucker, Sara; Hurles, Matthew; Beckmann... Journal: Journal of medical genetics Issue: Volume 48:Issue 3(2011) Page Start: 197 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Recurrent duplications of 17q12 associated with variable phenotypes. (30th September 2015) Authors: Mitchell, Elyse; Douglas, Andrew; Kjaegaard, Susanne; Callewaert, Bert; Vanlander, Arnaud; Janssens, Sandra; Yuen, Amy Lawson; Skinner, Cindy; Failla, Pinella; Alberti, Antonino; Avola, Emanuela; Fichera, Marco; Kibaek, Maria; Digilio, Maria C.; Hannibal, Mark C.; den Hollander, Nicolette S.; Biz... Journal: American journal of medical genetics Issue: Volume 167:Number 12(2015:Dec.) Page Start: 3038 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗