1. Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large‐scale rearrangements and splicing variants. Issue 4 (16th May 2017) Authors: Gaildrat, Pascaline; Lebbah, Said; Tebani, Abdellah; Sudrié‐Arnaud, Bénédicte; Tostivint, Isabelle; Bollee, Guillaume; Tubeuf, Hélène; Charles, Thomas; Bertholet‐Thomas, Aurelia; Goldenberg, Alice; Barbey, Frederic; Martins, Alexandra; Saugier‐Veber, Pascale; Frébourg, Thierry; Knebelmann, Bertra... Journal: Molecular genetics & genomic medicine Issue: Volume 5:Issue 4(2017) Page Start: 373 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗