1. De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes. Issue 4 (17th March 2015) Authors: Gil‐Rodríguez, María Concepción; Deardorff, Matthew A.; Ansari, Morad; Tan, Christopher A.; Parenti, Ilaria; Baquero‐Montoya, Carolina; Ousager, Lilian B.; Puisac, Beatriz; Hernández‐Marcos, María; Teresa‐Rodrigo, María Esperanza; Marcos‐Alcalde, Iñigo; Wesselink, Jan‐Jaap; Lusa‐Bernal, Silvia; B... Journal: Human mutation Issue: Volume 36:Issue 4(2015:Apr.) Page Start: 454 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Prenatal diagnosis: Down syndrome or more?. Issue 7 (13th June 2017) Authors: Jackson, Laird G. Journal: Human mutation Issue: Volume 38:Issue 7(2017) Page Start: 749 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Prenatal diagnosis: Down syndrome or more?. Issue 7 (July 2017) Authors: Jackson, Laird G. Journal: Human mutation Issue: Volume 38:Issue 7(2017) Page Start: 749 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗