1. Diagnostic Exome Sequencing Identifies Two Novel IQSEC2 Mutations Associated with X‐Linked Intellectual Disability with Seizures: Implications for Genetic Counseling and Clinical Diagnosis. Issue 3 (4th December 2013) Authors: Gandomi, Stephanie K.; Farwell Gonzalez, K. D.; Parra, M.; Shahmirzadi, L.; Mancuso, J.; Pichurin, P.; Temme, R.; Dugan, S.; Zeng, W.; Tang, Sha Journal: Journal of genetic counseling Issue: Volume 23:Issue 3(2014) Page Start: 289 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Ehlers Danlos syndrome and gastrointestinal manifestations: a 20‐year experience at Mayo Clinic. Issue 11 (16th September 2015) Authors: Nelson, A. D.; Mouchli, M. A.; Valentin, N.; Deyle, D.; Pichurin, P.; Acosta, A.; Camilleri, M. Journal: Neurogastroenterology & motility Issue: Volume 27:Issue 11(2015:Nov.) Page Start: 1657 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗