1. Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. Issue 11 (28th September 2012) Authors: Legendre, Marine; Gonzales, Marie; Goudefroye, Géraldine; Bilan, Frédéric; Parisot, Pauline; Perez, Marie-José; Bonnière, Maryse; Bessières, Bettina; Martinovic, Jelena; Delezoide, Anne-Lise; Jossic, Frédérique; Fallet-Bianco, Catherine; Bucourt, Martine; Tantau, Julia; Loget, Philippe; Loeuillet... Journal: Journal of medical genetics Issue: Volume 49:Issue 11(2012) Page Start: 698 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder. Issue 3 (3rd December 2019) Authors: Tessarech, Marine; Gorce, Magali; Boussion, Françoise; Bault, Jean‐Philippe; Triau, Stéphane; Charif, Majida; Khiaty, Salim; Delorme, Benoit; Guichet, Agnès; Ziegler, Alban; Bris, Céline; Laquerrière, Annie; Fallet‐Bianco, Catherine; Jacquette, Aurélia; Salhi, Houria; Héron, Delphine; Reynier, Pa... Journal: American journal of medical genetics Issue: Volume 182:Issue 3(2020) Page Start: 565 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗