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. Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene. Issue 3 (4th August 2020) Authors: Billon, Clarisse; Molin, Arnaud; Poirsier, Céline; Clemenson, Alix; Dauge, Coralie; Grelet, Maude; Sigaudy, Sabine; Patrier, Sophie; Goldenberg, Alice; Layet, Valérie; Tantau, Julia; Fleury, Clémence; Liard, Agnès; Diguet, Alain; Fritih, Radia; Verspyck, Eric; Rendu, John; Boutaud, Lucile; Tessie... Journal: Clinical genetics Issue: Volume 98:Issue 3(2020) Page Start: 261 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗