1. A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency. (24th April 2014) Authors: Ammann, S; Elling, R; Gyrd-Hansen, M; Dückers, G; Bredius, R; Burns, S O; Edgar, J D M; Worth, A; Brandau, H; Warnatz, K; zur Stadt, U; Hasselblatt, P; Schwarz, K; Ehl, S; Speckmann, C Journal: Clinical and experimental immunology Issue: Volume 176:Number 3(2014:Jun.) Page Start: 394 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations. Issue 1 (December 2015) Authors: Van Montfrans, J; Hartman, E; Braun, K; Hennekam, F; Hak, A; Nederkoorn, P; Westendorp, W; Bredius, R; Kollen, W; Scholvinck, E; Legger, G; Meyts, I; Liston, A; Lichtenbelt, K; Giltay, J; Van Haaften, G; De Vries Simons, G; Leavis, H; Nierkens, S; Sanders, C Journal: Pediatric rheumatology online journal Issue: Volume 13:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations. Issue 1 (December 2015) Authors: Van Montfrans, J; Hartman, E; Braun, K; Hennekam, F; Hak, A; Nederkoorn, P; Westendorp, W; Bredius, R; Kollen, W; Scholvinck, E; Legger, G; Meyts, I; Liston, A; Lichtenbelt, K; Giltay, J; Van Haaften, G; De Vries Simons, G; Leavis, H; Nierkens, S; Sanders, C Journal: Pediatric rheumatology online journal Issue: Volume 13:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗