1. Claudin‐16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation. (20th October 2015) Authors: Bardet, Claire; Courson, Frédéric; Wu, Yong; Khaddam, Mayssam; Salmon, Benjamin; Ribes, Sandy; Thumfart, Julia; Yamaguti, Paulo M; Rochefort, Gael Y; Figueres, Marie‐Lucile; Breiderhoff, Tilman; Garcia‐Castaño, Alejandro; Vallée, Benoit; Le Denmat, Dominique; Baroukh, Brigitte; Guilbert, Thomas; ... Journal: Journal of bone and mineral research Issue: Volume 31:Number 3(2016:Mar.) Page Start: 498 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Familial Pancreatic Intraductal Papillary and Mucinous Neoplasms Do Not Carry Constitutional or Postzygotic GNAS Activating Mutations. Issue 2 (February 2021) Authors: Gaujoux, Sebastien; Parvanescu, Alina; Fusco, Grazia; Linglart, Agnes; Sauvanet, Alain; Couvelard, Anne; Levy, Philippe; Rebours, Vinciane; Cros, Jerome Journal: Pancreas Issue: Volume 50:Issue 2(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory. (6th December 2021) Authors: Chappell, Kenneth; Francou, Bruno; Habib, Christophe; Huby, Thomas; Leoni, Marco; Cottin, Aurélien; Nadal, Florian; Adnet, Eric; Paoli, Eric; Oliveira, Christophe; Verstuyft, Céline; Davit-Spraul, Anne; Gaignard, Pauline; Lebigot, Elise; Duclos-Vallee, Jean-Charles; Young, Jacques; Kamenicky, Pet... Journal: Clinical chemistry Issue: Volume 68:Number 2(2022) Page Start: 313 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects. Issue 1 (December 2016) Authors: Rochtus, Anne; Martin-Trujillo, Alejandro; Izzi, Benedetta; Elli, Francesca; Garin, Intza; Linglart, Agnes; Mantovani, Giovanna; Perez de Nanclares, Guiomar; Thiele, Suzanne; Decallonne, Brigitte; Van Geet, Chris; Monk, David; Freson, Kathleen Journal: Clinical epigenetics Issue: Volume 8:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Two-year recombinant human growth hormone (rhGH) treatment is more effective in pre-pubertal compared to pubertal short children with X-linked hypophosphatemic rickets (XLHR). (October 2017) Authors: Rothenbuhler, Anya; Esterle, Laure; Gueorguieva, Iva; Salles, Jean-Pierre; Mignot, Brigitte; Colle, Michel; Linglart, Agnes Journal: Growth hormone & IGF research Issue: Volume 36(2017) Page Start: 11 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗