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. Corrigendum to: Haploidentical α/β T-cell and B-cell depleted stem cell transplantation in severe mevalonate kinase deficiency. (10th March 2021) Authors: Faraci, Maura; Giardino, Stefano; Podestà, Marina; Pierri, Filomena; Dell'Orso, Gianluca; Beccaria, Andrea; Neves, João Farela; Volpi, Stefano; Gattorno, Marco Journal: Rheumatology Issue: Volume 60:Number 7(2021) Page Start: 3484 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Fatal Central Nervous System Lymphocytic Vasculitis after Treatment for Burkitt Lymphoma in a Patient with a SH2D1A Mutation. Issue 2 (February 2019) Authors: Neves, João Farela; Raga, Lamberto Torralba; Chiang, Samuel C. C.; Tesi, Bianca; Vieira, José Pedro; Cordeiro, Ana Isabel; Borrego, Luis; Bryceson, Yenan T. Journal: Pediatric infectious disease journal Issue: Volume 38:Issue 2(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Haploidentical α/β T-cell and B-cell depleted stem cell transplantation in severe mevalonate kinase deficiency. (7th January 2021) Authors: Faraci, Maura; Giardino, Stefano; Podestà, Marina; Pierri, Filomena; Dell'Orso, Gianluca; Beccaria, Andrea; Neves, João Farela; Volpi, Stefano; Gattorno, Marco Journal: Rheumatology Issue: Volume 60:Number 10(2021) Page Start: 4850 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Invasive Meningococcal Disease Unraveling a Novel Mutation in the C5 Gene in a Portuguese Family. Issue 4 (April 2019) Authors: Marujo, Filipa; Costa, Luís Carlos; Duarte, Regina; Brito, Maria João; Cordeiro, Ana; Neves, Conceição; Neves, João Farela Journal: Pediatric infectious disease journal Issue: Volume 38:Issue 4(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Successful Handling of Disseminated BCG Disease in a Child with Severe Combined Immunodeficiency. (24th October 2011) Authors: Bacalhau, Sílvia; Freitas, Cristina; Valente, Rosalina; Barata, Deolinda; Neves, Conceição; Schäfer, Katrin; Lubatschofski, Annelie; Schulz, Ansgar; Neves, João Farela Other Names: Ottenhoff T. Academic Editor. Journal: Case reports in medicine Issue: Volume 2011(2011) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗