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. Rapid prenatal diagnosis of myotonic dystrophy in the second trimester using polymerase chain reaction. Issue 10 (October 1990) Authors: Gennarelli, M; Novelli, G; Uzielli, M L Giovannucci; Pietropolli, A; Dallapiccola, B Journal: Journal of medical genetics Issue: Volume 27:Issue 10(1990) Page Start: 662 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗