1. A novel mutation in NLRC4 in a large pedigree with an anakinra responsive autoinflammatory disease. Issue 1 (December 2015) Authors: Volker-Touw, N; de Koning, H; van Kempen, T; Oberndorff, K; van Steensel, M; Giltay, J; Boes, M; de Kovel, C; Simon, A; Frenkel, J; van Gijn, M 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) ↗
2. A novel mutation in NLRC4 in a large pedigree with an anakinra responsive autoinflammatory disease. Issue 1 (December 2015) Authors: Volker-Touw, N; de Koning, H; van Kempen, T; Oberndorff, K; van Steensel, M; Giltay, J; Boes, M; de Kovel, C; Simon, A; Frenkel, J; van Gijn, M 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. Diagnostic value of urinary mevalonic acid excretion in patietns with a clinical suspicion of mevalonate kinase deficiency (MKD). Issue 1 (December 2015) Authors: Jeyaratnam, J; ter Haar, N; de Sain-van der Velden, M; Waterham, H; van Gijn, M; Frenkel, J 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) ↗
4. Targeted NGS based hereditary autoinflammatory disorder screening in routine diagnostics, two year experience in the Netherlands. Issue 1 (December 2015) Authors: Elferink, MG; van Zon, P; Frenkel, J; Harts, W; Simon, A; van Royen-Kerkhof, A; Swart, J; van Amstel, H-K; van Gijn, M 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) ↗