1. Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. Issue 1 (1st July 2009) Authors: Vega, H; Trainer, A H; Gordillo, M; Crosier, M; Kayserili, H; Skovby, F; Uzielli, M L Giovannucci; Schnur, R E; Manouvrier, S; Blair, E; Hurst, J A; Forzano, F; Meins, M; Simola, K O J; Raas-Rothschild, A; Hennekam, R C M; Jabs, E Wang Journal: Journal of medical genetics Issue: Volume 47:Issue 1(2010) Page Start: 30 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. P–788 Health outcomes at birth, 12 and 24 months of 747 children conceived after Preimplantation Genetic Testing: a single centre experience. (6th August 2021) Authors: Trevisan, L; Forzano, F; Khalaf, Y; Tomlinson, C; Renwick, P; Davies, A; Bint, S; Semple, M; Deshpande, C; Flinter, F; Lashwood, A; Ashraf, T Journal: Human reproduction Issue: Volume 36:Supplement 1(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗