Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome

por Porto, Marianna P. R., Vergani, Naja, Carvalho, Antonio Carlos C., Cernach, Mirlene C. S. P., Brunoni, Decio, Perez, Ana Beatriz A.
Publicado 2010

Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using...

por D’Angelo, Carla S, Varela, Monica C, de Castro, Cláudia IE, Kim, Chong A, Bertola, Débora R, Lourenço, Charles M, Perez, Ana Beatriz A, Koiffmann, Celia P
Publicado 2014