1. Alpha‐thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation – c.109C>T (p.R37X). (30th May 2014) Authors: Basehore, M.J.; Michaelson‐Cohen, R.; Levy‐Lahad, E.; Sismani, C.; Bird, L.M.; Friez, M.J.; Walsh, T.; Abidi, F.; Holloway, L.; Skinner, C.; McGee, S.; Alexandrou, A.; Syrrou, M.; Patsalis, P.C.; Raymond, G.; Wang, T.; Schwartz, C.E.; King, M.‐C.; Stevenson, R.E. Journal: Clinical genetics Issue: Volume 87:Number 5(2015:May) Page Start: 461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. The RBMX gene as a candidate for the Shashi X‐linked intellectual disability syndrome. (5th December 2014) Authors: Shashi, V.; Xie, P.; Schoch, K.; Goldstein, D.B.; Howard, T.D.; Berry, M.N.; Schwartz, C.E.; Cronin, K.; Sliwa, S.; Allen, A.; Need, A.C. Journal: Clinical genetics Issue: Volume 88:Number 4(2015:Oct.) Page Start: 386 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗