OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment
Thauvin-Robinet, C, Thomas, S, Sinico, M, Aral, B, Burglen, L, Gigot, N, Dollfus, H, Rossignol, S, Raynaud, M, Philippe, C, Badens, C, Touraine, R, Gomes, C, Franco, B, Lopez, E, Elkhartoufi, N, Faivre, L, Munnich, A, Boddaert, N, Maldergem, L Van, Encha-Razavi, F, Lyonnet, S, Vekemans, M, Escudier, E, Attié-Bitach, T
Published in Clinical genetics (01.07.2013)
Published in Clinical genetics (01.07.2013)
Get full text
Journal Article
BBS10 mutations are common in ‘Meckel’-type cystic kidneys
Putoux, Audrey, Mougou-Zerelli, Soumaya, Thomas, Sophie, Elkhartoufi, Nadia, Audollent, Sophie, Le Merrer, Martine, Lachmeijer, Augusta, Sigaudy, Sabine, Buenerd, Annie, Fernandez, Carla, Delezoide, Anne-Lise, Gubler, Marie-Claire, Salomon, Rémi, Saad, Ali, Cordier, Marie-Pierre, Vekemans, Michel, Bouvier, Raymonde, Attie-Bitach, Tania
Published in Journal of medical genetics (01.12.2010)
Published in Journal of medical genetics (01.12.2010)
Get full text
Journal Article