1. A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities. (13th November 2012) Authors: Singh, Shalinder; Ashton, Fern; Marquis-Nicholson, Renate; Love, Jennifer M.; Lan, Chuan-Ching; Aftimos, Salim; George, Alice M.; Love, Donald R. Other Names: Cvitanovic-Sojat L. Academic Editor.; Singer G. Academic Editor.; Wong V. C. Academic Editor. Journal: Case reports in pediatrics Issue: Volume 2012(2012) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46, XY patients with disorders of sex development. (12th March 2013) Authors: Wu, Joyce Y.; McGown, Ivan N.; Lin, Lin; Achermann, John C.; Harris, Mark; Cowley, David M.; Aftimos, Salim; Neville, Kristen A.; Choong, Catherine S.; Cotterill, Andrew M. Journal: Clinical endocrinology Issue: Volume 78:Number 4(2013:Apr.) Page Start: 545 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Focal Dermal Hypoplasia Due to a Novel Mutation in a Boy with Klinefelter Syndrome. Issue 4 (7th November 2012) Authors: Alkindi, Said; Battin, Malcolm; Aftimos, Salim; Purvis, Diana Journal: Pediatric dermatology Issue: Volume 30:Issue 4(2013) Page Start: 476 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗