Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry

Authors: Ana Marta, Pedro Marques-Couto, Sara Vaz-Pereira, José Costa, Diogo Cabral, Sérgio Estrela-Silva, Maria Franca, João Heitor Marques, Maria João Menéres, Carolina Lemos, João Melo Beirão, Célia Azevedo Soares, Ana Luísa Carvalho, João Pedro Marques

Source: npj Genomic Medicine, Vol 10, Iss 1, Pp 1-11 (2025)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2056-7944

Access URL: https://doaj.org/article/8e07c873ceb1477187cbdd8c4ac16583

Co-occurrence of neurofibromatosis type 1, caused by Alu insertion, and 16p13.11 microduplication

Authors: Rita Quental, Diana Pinho, Natália Tkachenko, Diana Gonzaga, Maria do Céu Mota, Cristina Garrido, Carla Carmona, Sofia Quental, Ana Maria Fortuna, Célia Azevedo Soares

Source: Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-4 (2024)

Subject Terms: NF1, 16p13.11, Alu insertion, Coexisting disorders, Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2090-2441

Access URL: https://doaj.org/article/cfb400650cd94a818d9ff88d77034158

On the Power of Data Visualization in Transforming Patient Decision-Making

Authors: Diogo Nogueira, Célia Azevedo Soares

Source: Acta Médica Portuguesa (2024)

Subject Terms: Comprehension, Genetic Counseling, Patient Participation Relations, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: https://actamedicaportuguesa.com/revista/index.php/amp/article/view/21904; https://doaj.org/toc/0870-399X; https://doaj.org/toc/1646-0758

Access URL: https://doaj.org/article/7de68538ba5748e6bd24fff8727bbcc0

The socioeconomic epidemiology of inherited retinal diseases in Portugal

Authors: Ana Marta, João Pedro Marques, Cristina Santos, Luísa Coutinho-Santos, Sara Vaz-Pereira, José Costa, Pedro Arede, Raquel Félix, Sara Geada, Nuno Gouveia, Rui Silva, Margarida Baptista, Miguel Lume, Ricardo Parreira, Célia Azevedo Soares, Maria João Menéres, Carolina Lemos, João Melo Beirão

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)

Subject Terms: Inherited retinal diseases, Epidemiology, Economics, Social, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/9875a6d3f0cd430c869ea987bc399996

The Visual Impairment of Inherited Retinal Diseases in Portugal as per the National Table of Disabilities

Authors: Ana Marta, MD, MSc, Vasco Miranda, MD, MSc, Miguel Lume, MD, MSc, Ricardo Parreira, MD, MSc, Célia Azevedo Soares, MD, PhD, Maria João Menéres, MD, MSc, Carolina Lemos, PhD, João Melo Beirão, MD, PhD

Source: Ophthalmology Science, Vol 4, Iss 3, Pp 100443- (2024)

Subject Terms: Inherited retinal diseases, Visual impairment, National Table of Disability, Ophthalmology, RE1-994

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666914523001756; https://doaj.org/toc/2666-9145

Access URL: https://doaj.org/article/9b821dd5626c44c18a19fc0a93c9aad7

Why Should SARS-CoV-2 Post-Pandemic Recovery Funding Be Used to Foster a Physician-Scientist Program?

Authors: João Barbosa-Breda, Inês Leal, David Cordeiro Sousa, Célia Azevedo Soares

Source: Acta Médica Portuguesa, Vol 33, Iss 9 (2020)

Subject Terms: Biomedical Research, COVID-19, Education, Medical, Physicians, Portugal, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/14421; https://doaj.org/toc/0870-399X; https://doaj.org/toc/1646-0758

Access URL: https://doaj.org/article/25426347d7974b42aa0b54d61bdd5391

Sobre o Futuro dos Médicos-Cientistas Portugueses

Authors: Célia Azevedo Soares, João Incio, Miguel Reis Ferreira, João Barbosa-Breda, Liliana Páris, José Luís Sandoval

Source: Acta Médica Portuguesa, Vol 29, Iss 12 (2016)

Subject Terms: Educação Médica, Investigação Biomédica, Médicos, Portugal, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/8388; https://doaj.org/toc/0870-399X; https://doaj.org/toc/1646-0758

Access URL: https://doaj.org/article/18fed32885d64a5ab0e40326912fa615

Autism spectrum disorder and PTEN hamartoma tumor syndrome â Child and adolescent psychiatric perspective

Authors: Marta P. Antunes, Natália Tkachenko, Ana R. Soares, Graça Fernandes, Ana M. Fortuna, Célia Azevedo-Soares

Source: Portuguese Journal of Pediatrics, Vol 55, Iss 2 (2024)

Subject Terms: Autism spectrum disorder. Macrocephaly. PTEN hamartoma tumor syndrome., Pediatrics, RJ1-570, Medicine (General), R5-920

File Description: electronic resource

Relation: https://pjp.spp.pt/frame_eng.php?id=72; https://doaj.org/toc/2184-4453

Access URL: https://doaj.org/article/a44efdac0bc7403a9210fefc31165422

Avaliação do vocabulário de crianças surdas inseridas no contexto educacional da pré-escola do Instituto Nacional de Educação de Surdos

Authors: John Van Borsel, Mônica Medeiros Britto Pereira, Regina Célia Azevedo Soares

Source: Revista Espaço, Vol 0, Iss 40 (2013)

Subject Terms: Special aspects of education, LC8-6691, Vocational rehabilitation. Employment of people with disabilities, HD7255-7256

File Description: electronic resource

Relation: http://www.ines.gov.br/seer/index.php/revista-espaco/article/view/148; https://doaj.org/toc/0103-7668; https://doaj.org/toc/2525-6203

Access URL: https://doaj.org/article/18b0ba977278466ca48ac28adfdf7866