Síndrome de Turner: diagnóstico tardio na adolescência

by Teresa Torres, Susana Lopes, Cláudia Melo, Paula Rendeiro, Teresa Borges, Paula Fonseca
Published 2014-12-01

The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review

by Fátima Lopes, Fátima Lopes, Fátima Torres, Fátima Torres, Gabriela Soares, Clara D. van Karnebeek, Clara D. van Karnebeek, Cecília Martins, Diana Antunes, João Silva, Lauren Muttucomaroe, Luís Filipe Botelho, Susana Sousa, Susana Sousa, Paula Rendeiro, Purificação Tavares, Hilde Van Esch, Evica Rajcan-Separovic, Patrícia Maciel, Patrícia Maciel
Published 2019-02-01

Genomic imbalances defining novel intellectual disability associated loci

by Fátima Lopes, Fátima Torres, Gabriela Soares, Mafalda Barbosa, João Silva, Frederico Duque, Miguel Rocha, Joaquim Sá, Guiomar Oliveira, Maria João Sá, Teresa Temudo, Susana Sousa, Carla Marques, Sofia Lopes, Catarina Gomes, Gisela Barros, Arminda Jorge, Felisbela Rocha, Cecília Martins, Sandra Mesquita, Susana Loureiro, Elisa Maria Cardoso, Maria José Cálix, Andreia Dias, Cristina Martins, Céu R. Mota, Diana Antunes, Juliette Dupont, Sara Figueiredo, Sónia Figueiroa, Susana Gama-de-Sousa, Sara Cruz, Adriana Sampaio, Paul Eijk, Marjan M. Weiss, Bauke Ylstra, Paula Rendeiro, Purificação Tavares, Margarida Reis-Lima, Jorge Pinto-Basto, Ana Maria Fortuna, Patrícia Maciel
Published 2019-07-01