Multimodal imaging of retinal pigment epithelial detachments in patients with C3 glomerulopathy: case report and review of the literature
Kheir, Valeria, Dirani, Ali, Halfon, Matthieu, Venetz, Jean-Pierre, Halabi, Georges, Guex-Crosier, Yan
Published in BMC ophthalmology (22.11.2017)
Published in BMC ophthalmology (22.11.2017)
Get full text
Journal Article
Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies
Kheir, Valeria, Cortés‐González, Vianney, Zenteno, Juan C., Schorderet, Daniel F.
Published in Human mutation (01.06.2019)
Published in Human mutation (01.06.2019)
Get full text
Journal Article
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies
Xu, Mingchu, Xie, Yajing (Angela), Abouzeid, Hana, Gordon, Christopher T., Fiorentino, Alessia, Sun, Zixi, Lehman, Anna, Osman, Ihab S., Dharmat, Rachayata, Riveiro-Alvarez, Rosa, Bapst-Wicht, Linda, Babino, Darwin, Arno, Gavin, Busetto, Virginia, Zhao, Li, Li, Hui, Lopez-Martinez, Miguel A., Azevedo, Liliana F., Hubert, Laurence, Pontikos, Nikolas, Eblimit, Aiden, Lorda-Sanchez, Isabel, Kheir, Valeria, Plagnol, Vincent, Oufadem, Myriam, Soens, Zachry T., Yang, Lizhu, Bole-Feysot, Christine, Pfundt, Rolph, Allaman-Pillet, Nathalie, Nitschké, Patrick, Cheetham, Michael E., Lyonnet, Stanislas, Agrawal, Smriti A., Li, Huajin, Pinton, Gaëtan, Michaelides, Michel, Besmond, Claude, Li, Yumei, Yuan, Zhisheng, von Lintig, Johannes, Webster, Andrew R., Le Hir, Hervé, Stoilov, Peter, Black, Graeme, Hall, Georgina, Gillespie, Rachel, Ramsden, Simon, Manson, Forbes, Sergouniotis, Panagiotis, Inglehearn, Chris, Toomes, Carmel, Ali, Manir, McKibbin, Martin, Poulter, James, Lord, Emma, Nemeth, Andrea, Halford, Stephanie, Downes, Susan, Yu, Jing, Amiel, Jeanne, Hardcastle, Alison J., Ayuso, Carmen, Sui, Ruifang, Chen, Rui, Allikmets, Rando, Schorderet, Daniel F.
Published in American journal of human genetics (06.04.2017)
Published in American journal of human genetics (06.04.2017)
Get full text
Journal Article