Ultrasound and molecular prenatal diagnosis of Beckwith-Wiedemann syndrome: Two case reports

por de Vasconcelos Gaspar, Andreia, Branco, Miguel, Galhano, Eulália, Ramos, Fabiana
Publicado 2022

Why could a woman have three Trisomy 21 pregnancies? – a case report

por Magalhães, Magda, Marques, Cecília, Ramos, Fabiana, Jardim, Ana, Franco, Sofia, Coelho, Filomena, Carreira, Isabel, Moura, Paulo
Publicado 2017

Abnormal late visual responses and alpha oscillations in neurofibromatosis type 1: a link to visual and attention deficits

por Ribeiro, Maria J, d’Almeida, Otília C, Ramos, Fabiana, Saraiva, Jorge, Silva, Eduardo D, Castelo-Branco, Miguel
Publicado 2014

Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth

por Matoso, Eunice, Ramos, Fabiana, Ferrão, José, Pires, Luís M, Mascarenhas, Alexandra, Melo, Joana B, Carreira, Isabel M
Publicado 2014

Peripheral Attentional Targets under Covert Attention Lead to Paradoxically Enhanced Alpha Desynchronization in Neurofibromatosis Type 1

por Silva, Gilberto, Ribeiro, Maria J., Costa, Gabriel N., Violante, Inês, Ramos, Fabiana, Saraiva, Jorge, Castelo-Branco, Miguel
Publicado 2016

Aspects that influence the self-care of patients living with human immunodeficiency virus

por Alencar, Rúbia Aguiar, Parenti, Ana Beatriz Henrique, Lopes, Camila de Carvalho, Ramos, Fabiana Tomé, Ciosak, Suely Itsuko
Publicado 2019

DEPDC5 variant in focal cortical dysplasia: a case report and review of the literature

por Jesus-Ribeiro, Joana, Pereira, Cristina, Robalo, Conceição, Pereira, Daniela J, Duro, Diana, Ramos, Fabiana, Freire, António, Melo, Joana B
Publicado 2021

A serious and unusual presentation of congenital isolated ACTH deficiency due to TBX19 mutation, beyond the neonatal period

por Vieira, Inês Henriques, Mourinho Bala, Nádia, Ramos, Fabiana, Dinis, Isabel, Cardoso, Rita, Caetano, Joana Serra, Rodrigues, Dírcea, Paiva, Isabel, Mirante, Alice
Publicado 2022

Accuracy of Prenatal Diagnosis in Elective Termination of Pregnancy: 385 Cases from 2000 to 2007

por Ramos, Fabiana, Maia, Sofia, Branco, Miguel, Raposo, Joana, Sá, Joaquim, Sousa, Sérgio, Venâncio, Margarida, Pina, Raquel, Galhano, Eulália, Ramos, Lina, Saraiva, Jorge
Publicado 2011

Abnormal Brain Activation in Neurofibromatosis Type 1: A Link between Visual Processing and the Default Mode Network

por Violante, Inês R., Ribeiro, Maria J., Cunha, Gil, Bernardino, Inês, Duarte, João V., Ramos, Fabiana, Saraiva, Jorge, Silva, Eduardo, Castelo-Branco, Miguel
Publicado 2012

Copy number variants prioritization after array-CGH analysis – a cohort of 1000 patients

por Carreira, Isabel Marques, Ferreira, Susana Isabel, Matoso, Eunice, Pires, Luís Miguel, Ferrão, José, Jardim, Ana, Mascarenhas, Alexandra, Pinto, Marta, Lavoura, Nuno, Pais, Cláudia, Paiva, Patrícia, Simões, Lúcia, Caramelo, Francisco, Ramos, Lina, Venâncio, Margarida, Ramos, Fabiana, Beleza, Ana, Sá, Joaquim, Saraiva, Jorge, de Melo, Joana Barbosa
Publicado 2015