1. DOCK6 Mutations Are Responsible for a Distinct Autosomal‐Recessive Variant of Adams–Oliver Syndrome Associated with Brain and Eye Anomalies. Issue 11 (7th August 2015) Authors: Sukalo, Maja; Tilsen, Felix; Kayserili, Hülya; Müller, Dietmar; Tüysüz, Beyhan; Ruddy, Deborah M.; Wakeling, Emma; Ørstavik, Karen Helene; Bramswig, Nuria C.; Snape, Katie M.; Trembath, Richard; De Smedt, Maryse; van der Aa, Nathalie; Skalej, Martin; Mundlos, Stefan; Wuyts, Wim; Southgate, Laura;... Journal: Human mutation Issue: Volume 36:Issue 11(2015:Nov.) Page Start: 1112 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. DOCK6 Mutations Are Responsible for a Distinct Autosomal‐Recessive Variant of Adams–Oliver Syndrome Associated with Brain and Eye Anomalies. Issue 6 (21st April 2015) Authors: Sukalo, Maja; Tilsen, Felix; Kayserili, Hülya; Müller, Dietmar; Tüysüz, Beyhan; Ruddy, Deborah M.; Wakeling, Emma; Ørstavik, Karen Helene; Snape, Katie M.; Trembath, Richard; De Smedt, Maryse; van der Aa, Nathalie; Skalej, Martin; Mundlos, Stefan; Wuyts, Wim; Southgate, Laura; Zenker, Martin Journal: Human mutation Issue: Volume 36:Issue 6(2015:Jun.) Page Start: 593 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies. (August 2015) Authors: Southgate, Laura; Sukalo, Maja; Karountzos, Anastasios S.V.; Taylor, Edward J.; Collinson, Claire S.; Ruddy, Deborah; Snape, Katie M.; Dallapiccola, Bruno; Tolmie, John L.; Joss, Shelagh; Brancati, Francesco; Digilio, Maria Cristina; Graul-Neumann, Luitgard M.; Salviati, Leonardo; Coerdt, Wiltrud... Journal: Circulation Issue: Volume 8:Number 4(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗