1. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study. (26th April 2013) Authors: Makrythanasis, P; van Bon, BW; Steehouwer, M; Rodríguez‐Santiago, B; Simpson, M; Dias, P; Anderlid, BM; Arts, P; Bhat, M; Augello, B; Biamino, E; Bongers, EMHF; del Campo, M; Cordeiro, I; Cueto‐González, AM; Cuscó, I; Deshpande, C; Frysira, E; Izatt, L; Flores, R Journal: Clinical genetics Issue: Volume 84:Number 6(2013:Dec.) Page Start: 539 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Rare NOX3 Variants Confer Susceptibility to Agranulocytosis During Thyrostatic Treatment of Graves' Disease. Issue 6 (10th July 2017) Authors: Plantinga, TS; Arts, P; Knarren, GH; Mulder, AH; Wakelkamp, IM; Hermus, AR; Joosten, LA; Netea, MG; Bisschop, PH; de Herder, WW; Beijers, HJ; de Bruin, IJ; Gilissen, C; Veltman, JA; Hoischen, A; Smit, JW; Netea‐Maier, RT Journal: Clinical pharmacology & therapeutics Issue: Volume 102:Issue 6(2017) Page Start: 1017 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Mimicking Behçet's disease: GM-CSF gain of function mutation in a family suffering from a Behçet's disease-like disorder marked by extreme pathergy. (28th January 2021) Authors: Rösler, B; Heinhuis, B; Wang, X; Silvestre, R; Joosten, L A B; Netea, M G; Arts, P; Mantere, T; Lefeber, D J; Hoischen, A; Veerdonk, F L Journal: Clinical and experimental immunology Issue: Volume 204:Number 2(2021) Page Start: 189 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. P105 Identification of rare coding variants in IL-1-related pathways in patients with adult-onset still's disease. (March 2019) Authors: Cavalli, G; van Deuren, R; Arts, P; Steehouwer, M; Sfriso, P; Colafrancesco, S; Priori, R; Cantarini, L; Baldissera, E; van de Veerdonk, F; Dagna, L; Hoischen, A; Dinarello, CA Journal: Annals of the rheumatic diseases Issue: Volume 78(2019)Supplement 1 Page Start: A46 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗