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. 202 Therapeutic resolution of pulmonary arterial hypertension (pah) by novel small molecule natural products. (5th June 2017) Authors: Sharmin, N; Malik, H; Siddiqui, A; Chowdhury, H; Kanagenti, S; Graham, A; Wright, C; Morrell, N; Trembath, RC; Nasim, MT Journal: Heart Issue: Volume 103(2017)Supplement 5 Page Start: A136 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. S40 Phenotypic characterisation of GDF2 mutation carriers in a large cohort of patients with pulmonary arterial hypertension. (December 2018) Authors: Swietlik, EM; Hodgson, J; Hadinnapola, C; Bleda, M; Haimel, M; Church, C; Coghlan, G; Condliffe, R; Corris, PA; Gibbs, JSR; Holden, S; Howard, L; Humbert, M; Jonson, M; Kiely, DG; Lawrie, A; Lordan, J; MacKenzie Ross, RV; Olschewski, H; Moledina, S Journal: Thorax Issue: Volume 73(2018)Supplement 4 Page Start: A24 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗