Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings

od Valsassina, Rita, Briosa, Filipa, Soares, Joana, Amorim, Marta, Limbert, Catarina
izdano v Clin Case Rep (2020)

Toxic Dilated Cardiomyopathy: Recognizing a Potentially Reversible Disease

od Rangel, Inês, Amorim, Marta, Gonçalves, Alexandra, Sousa, Carla, Bettencourt, Paulo, Maciel, Maria Júlia
Izdano 2014

Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case report

od Marques, Bárbara, Ferreira, Cristina, Brito, Filomena, Pedro, Sónia, Alves, Cristina, Lourenço, Teresa, Amorim, Marta, Correia, Hildeberto
izdano v Mol Cytogenet (2016)

Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene

od Zegre Amorim, Marta, Houghton, Jayne A. L., Carmo, Sara, Salva, Inês, Pita, Ana, Pereira-da-Silva, Luis
izdano v Case Rep Genet (2015)

AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria

od Carmona, Susana, Marecos, Clara, Amorim, Marta, Ferreira, Ana C., Conceição, Carla, Brás, José, Duarte, Sofia T., Guerreiro, Rita
izdano v Neurol Genet (2018)