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. 123 LARSEN SYNDROME CLINICAL AND RADIOGRAPHIC DELINEATION. (1st January 2004) Authors: Earl, D.; Kreutzman, J.; Field, F.; Krakow, D.; Wilcox, W.; Rimoin, D.; Lachman, R.; Graham, J. Journal: Journal of investigative medicine Issue: Volume 52(2004)Supplement 1 Page Start: S100 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Whole‐exome sequencing expands the phenotype of Hunter syndrome. (28th July 2013) Authors: Nikkel, S.M.; Huang, L.; Lachman, R.; Beaulieu, C.L.; Schwartzentruber, J.; FORGE Canada Consortium; Majewski, J.; Geraghty, M.T.; Boycott, K.M. Journal: Clinical genetics Issue: Volume 86:Number 2(2014:Aug.) Page Start: 172 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗