1. Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients. (8th January 2015) Authors: Jedraszak, Guillaume; Demeer, Bénédicte; Mathieu‐Dramard, Michèle; Andrieux, Joris; Receveur, Aline; Weber, Astrid; Maye, Una; Foulds, Nicola; Temple, IK; Crolla, John; Alex‐Cordier, Marie‐Pierre; Sanlaville, Damien; Ewans, Lisa; Wilson, Meredith; Armstrong, Ruth; Clarkson, Amanda; Copin, Henri; ... Journal: American journal of medical genetics Issue: Volume 167:Number 3(2015:Mar.) Page Start: 504 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Pallister-Killian syndrome: a study of 22 British patients. Issue 7 (17th April 2015) Authors: Blyth, Moira; Maloney, Viv; Beal, Sarah; Collinson, Morag; Huang, Shuwen; Crolla, John; Temple, I Karen; Baralle, Diana Journal: Journal of medical genetics Issue: Volume 52:Issue 7(2015) Page Start: 454 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) ↗