1. A Novel Deletion in SMPX Causes a Rare form of X‐Linked Progressive Hearing Loss in Two Families Due to a Founder Effect. Issue 1 (11th October 2012) Authors: Abdelfatah, Nelly; Merner, Nancy; Houston, Jim; Benteau, Tammy; Griffin, Anne; Doucette, Lance; Stockley, Tracy; Lauzon, Julie L.; Young, Terry‐Lynn Journal: Human mutation Issue: Volume 34:Issue 1(2013:Jan.) Page Start: 66 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Issue 1 (24th October 2020) Authors: Dyment, David A.; O'Donnell‐Luria, Anne; Agrawal, Pankaj B.; Coban Akdemir, Zeynep; Aleck, Kyrieckos A.; Antaki, Danny; Al Sharhan, Hind; Au, Ping‐Yee B.; Aydin, Hatip; Beggs, Alan H.; Bilguvar, Kaya; Boerwinkle, Eric; Brand, Harrison; Brownstein, Catherine A.; Buyske, Steve; Chodirker, Bernard; ... Journal: American journal of medical genetics Issue: Volume 185:Issue 1(2021) Page Start: 119 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Mainstreaming Genetic Testing for Adult Patients With Autosomal Dominant Polycystic Kidney Disease. (October 2021) Authors: Elliott, Mark D.; James, Leslie C.; Simms, Emily L.; Sharma, Priyana; Girard, Louis P.; Cheema, Kim; Elliott, Meghan J.; Lauzon, Julie L.; Chun, Justin Journal: Canadian journal of kidney health and disease = Issue: Volume 8(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Novel Mutations in Geleophysic Dysplasia Type 1. (May 2014) Authors: Porayette, Prashob; Fruitman, Deborah; Lauzon, Julie L.; Le Goff, Carine; Cormier-Daire, Valérie; Sanders, Stephen P.; Pinto-Rojas, Alfredo; Perez-Atayde, Antonio R. Journal: Pediatric and developmental pathology Issue: Volume 17:Number 3(2014) Page Start: 209 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗