Scientific Highlights

Articles
Maria Lopes-de-Almeida, Luzia Garrido, João Paulo Oliveira, Sérgio Castedo, Carla Oliveira. The role of medical geneticists in the integrated care offered to patients with hereditary cancer syndromes (Poster) In: Meeting Abstracts Medicine (2019) 98:26.

Deficiência de Piruvato Desidrogenase, published in Enciclopédia Pediátrica Online PEDIPEDIA.

Beckwith Wiedemann Syndrome – a 9 year retrospective analysis in: Virschows Arch (2016) 469 (Suppl 1):S1-S346.

Almeida ML, Sá J, Carminho T, Salgado JR, Carvalho AL, Louro P, Garabal A, Reis CF, Oliveira R, Maia S, Ramos F, Sousa SB, Venâncio M, Ramos L, Saraiva JM. Brugada syndrome cases review between 2006 to 2015 in the Medical Genetic Unit of Pediatrics’ Hospital of Coimbra. In: Nascer e Crescer volume 25, suplemento 1

Lopes-de-Almeida M, C. Reis, P. Cardoso, J. Sá, J. M. Saraiva, A. Beleza-Meireles. “Further phenotypic delineation of metatropic dysplasia In: Eur J Hum Genet. 2014 May;22 Suppl 1. 6.

Lopes-De-Almeida M, Ramos L., Cordeiro G, Almeida R, Sa J, Saraiva JM. A portuguese family with CADASIL diagnosis with anticipation age of onset observed. Poster presented at 44th Genetics Conference Doutor Jacinto Magalhães; 2015; Porto, Portugal.