1. 25 MUTATIONS IN STXBP3 CONTRIBUTE TO VERY EARLY ONSET OF IBD, IMMUNODEFICIENCY AND HEARING LOSS. (18th January 2018) Authors: Kelsen, Judith R; Ouahed, Jodie; Spessott, Waldo A; Kooshesh, Kameron; Sanmillan, Maria L; Dawany, Noor; Sullivan, Kathleen E; Hamilton, Kathryn; Slowik, Voytek; Nejentsev, Sergey; Neves, João Farela; Flores, Helena; Chung, Wendy K; Wilson, Ashley; Yeboa, Kwame Anyane; Wou, Karen; Jain, Preti; To... Journal: Inflammatory bowel diseases Issue: Volume 24(2018)Supplement 1 Page Start: S28 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation. (23rd April 2021) Authors: Ouahed, Jodie; Kelsen, Judith R; Spessott, Waldo A; Kooshesh, Kameron; Sanmillan, Maria L; Dawany, Noor; Sullivan, Kathleen E; Hamilton, Kathryn E; Slowik, Voytek; Nejentsev, Sergey; Neves, João Farela; Flores, Helena; Chung, Wendy K; Wilson, Ashley; Anyane-Yeboa, Kwame; Wou, Karen; Jain, Preti; ... Journal: Journal of Crohn's and colitis Issue: Volume 15:Number 11(2021) Page Start: 1908 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗