1. Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases. Issue 6 (23rd February 2017) Authors: Ranza, E.; Huber, C.; Levin, N.; Baujat, G.; Bole‐Feysot, C.; Nitschke, P.; Masson, C.; Alanay, Y.; Al‐Gazali, L.; Bitoun, P.; Boute, O.; Campeau, P.; Coubes, C.; McEntagart, M.; Elcioglu, N.; Faivre, L.; Gezdirici, A.; Johnson, D.; Mihci, E.; Nur, B.G. Journal: Clinical genetics Issue: Volume 91:Issue 6(2017) Page Start: 868 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients. (9th December 2014) Authors: Spena, S.; Milani, D.; Rusconi, D.; Negri, G.; Colapietro, P.; Elcioglu, N.; Bedeschi, F.; Pilotta, A.; Spaccini, L.; Ficcadenti, A.; Magnani, C.; Scarano, G.; Selicorni, A.; Larizza, L.; Gervasini, C. Journal: Clinical genetics Issue: Volume 88:Number 5(2015:Nov.) Page Start: 431 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗