1. 114 A CASE OF AUTOSOMAL RECESSIVE INFANTILE OSTEOPETROSIS DUE TO MUTATION IN TCIRG1 PRESENTING WITH MULTIPLE CONGENITAL ANOMALIES. (1st January 2006) Authors: Conway, R.; Lachman, R.; Hurvitz, C.; Falk, R. Journal: Journal of investigative medicine Issue: Volume 54:Number 1(2006) Page Start: S99 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 132 THE FEMALE PHENOTYPE OF OTO-PALATO-DIGITAL SYNDROME TYPE 2— A REVIEW AND REPORT OF POSSIBLE NEW FEATURES. (1st January 2005) Authors: Conway, R.; Graham, J.; Falk, R. Journal: Journal of investigative medicine Issue: Volume 53:Number 1(2005) Page Start: S100 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗