Perinatal-lethal Gaucher disease presenting as hydrops fetalis

por BenHamida, Emira, Ayadi, Imene, Ouertani, Ines, Chammem, Maroua, Bezzine, Ahlem, BenTmime, Riadh, Attia, Leila, Mrad, Ridha, Marrakchi, Zahra
Publicado 2015

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

por Redin, Claire, Le Gras, Stéphanie, Mhamdi, Oussema, Geoffroy, Véronique, Stoetzel, Corinne, Vincent, Marie-Claire, Chiurazzi, Pietro, Lacombe, Didier, Ouertani, Ines, Petit, Florence, Till, Marianne, Verloes, Alain, Jost, Bernard, Chaabouni, Habiba Bouhamed, Dollfus, Helene, Mandel, Jean-Louis, Muller, Jean
Publicado 2012