Prenatal diagnosis of holoprosencephaly associated with Smith–Lemli–Opitz syndrome (SLOS) in a 46,XX fetus

by André Travessa, Patrícia Dias, Pedro Rocha, Ana Berta Sousa
Published 2017-08-01

Epileptic Encephalopathies of Childhood: The New Paradigm of Genetic Diagnosis

by Rita Martins, Oana Moldovan, Ana Berta Sousa, António Levy, Sofia Quintas
Published 2020-06-01

Upper limb phocomelia: A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance of chromosomal microarray in limb reduction defects

by André M. Travessa, Patrícia Dias, Antónia Santos, Sónia Custódio, Ana Sousa, Ana Berta Sousa
Published 2020-03-01

RECÉM-NASCIDO COM EPIDERMÓLISE BOLHOSA JUNCIONAL NÃO-HERLITZ - A IMPORTÂNCIA DO DIAGNÓSTICO PRÉ- NATAL

by Leonor Lopes, Paulo Leal Filipe, Ana Berta Sousa, Maria João Lages, Fernanda Dinis, Carolina Gouveia
Published 2015-04-01

NGLY1 deficiency—A rare congenital disorder of deglycosylation

by Patrícia Lipari Pinto, Catarina Machado, Patrícia Janeiro, Juliette Dupont, Sofia Quintas, Ana Berta Sousa, Ana Gaspar
Published 2020-05-01

Ectima Gangrenoso: Um Alerta Para Imunodeficiência

by Erica Torres, Bárbara Marques, Joana Gil, Maria João Virtuoso, Ana Berta Sousa, Isabel Esteves, José Gonçalo Marques
Published 2016-05-01

Monozygotic Twins Concordant for Common Variable Immunodeficiency: Strikingly Similar Clinical and Immune Profile Associated With a Polygenic Burden

by Susana L. Silva, Susana L. Silva, Susana L. Silva, Mariana Fonseca, Mariana Fonseca, Marcelo L. M. Pereira, Sara P. Silva, Sara P. Silva, Sara P. Silva, Rita R. Barbosa, Ana Serra-Caetano, Ana Serra-Caetano, Elena Blanco, Elena Blanco, Pedro Rosmaninho, Pedro Rosmaninho, Martin Pérez-Andrés, Martin Pérez-Andrés, Ana Berta Sousa, Ana Berta Sousa, Ana Berta Sousa, Alexandre A. S. F. Raposo, Alexandre A. S. F. Raposo, Margarida Gama-Carvalho, Rui M. M. Victorino, Rui M. M. Victorino, Rui M. M. Victorino, Lennart Hammarstrom, Ana E. Sousa, Ana E. Sousa
Published 2019-11-01

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

by Mathieu Quinodoz, Virginie G. Peter, Nicola Bedoni, Béryl Royer Bertrand, Katarina Cisarova, Arash Salmaninejad, Neda Sepahi, Raquel Rodrigues, Mehran Piran, Majid Mojarrad, Alireza Pasdar, Ali Ghanbari Asad, Ana Berta Sousa, Luisa Coutinho Santos, Andrea Superti-Furga, Carlo Rivolta
Published 2021-01-01

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

by Riccardo Sangermano, Iris Deitch, Virginie G. Peter, Rola Ba-Abbad, Emily M. Place, Erin Zampaglione, Naomi E. Wagner, Anne B. Fulton, Luisa Coutinho-Santos, Boris Rosin, Vincent Dunet, Ala’a AlTalbishi, Eyal Banin, Ana Berta Sousa, Mariana Neves, Anna Larson, Mathieu Quinodoz, Michel Michaelides, Tamar Ben-Yosef, Eric A. Pierce, Carlo Rivolta, Andrew R. Webster, Gavin Arno, Dror Sharon, Rachel M. Huckfeldt, Kinga M. Bujakowska
Published 2021-06-01