Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10

Por Pingault, Veronique, Pierre-Louis, Laurence, Chaoui, Asma, Verloes, Alain, Sarrazin, Elisabeth, Brandberg, Goran, Bondurand, Nadege, Uldall, Peter, Manouvrier-Hanu, Sylvie
Publicado no Am J Med Genet A (2014)

Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice

Por Mosbah, Héléna, Vatier, Camille, Boccara, Franck, Jéru, Isabelle, Lascols, Olivier, Vantyghem, Marie-Christine, Fève, Bruno, Donadille, Bruno, Sarrazin, Elisabeth, Benabbou, Sophie, Inamo, Jocelyn, Ederhy, Stéphane, Cohen, Ariel, Neraud, Barbara, Richard, Pascale, Picard, Fabien, Christin-Maitre, Sophie, Redheuil, Alban, Wahbi, Karim, Vigouroux, Corinne
Publicado no Cells (2020)