• Rua Câmara Pestana Edifício CEDOC II - Nº6 1150-082 LISBOA

    Portugal

  • 7 Citations
  • 1 h-Index
20162017
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Fingerprint Dive into the research topics where João Manuel da Silva Gonçalves is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

Hemochromatosis Medicine & Life Sciences
Iron Medicine & Life Sciences
Mutation Medicine & Life Sciences
Population Medicine & Life Sciences
Genes Medicine & Life Sciences
Iron Metabolism Disorders Medicine & Life Sciences
5' Untranslated Regions Medicine & Life Sciences
Missense Mutation Medicine & Life Sciences

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Research Output at NOVA 2016 2017

  • 7 Citations
  • 1 h-Index
  • 2 Article
13 Downloads (Pure)

PROS1 novel splice-site variant decreases protein S expression in patients from two families with thrombotic disease

Menezes, J., Ventura, C., Costa, J. M., Parreira, E., Romao, L. & Goncalves, J., Dec 2017, In : CLINICAL CASE REPORTS. 5, 12, p. 2062-2065 4 p.

Research output: Contribution to journalArticle

Open Access
File
7 Citations (Scopus)

Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population

Faria, R. A. M., Silva, B., Silva, C. O., Loureiro, P., Queiroz, A., Fraga, S., Esteves, J., Mendes, D., Fleming, R., Vieira, L., Gonçalves, J. & Faustino, P., Oct 2016, In : Blood Cells Molecules And Diseases. 61, p. 10-15 6 p.

Research output: Contribution to journalArticle

Hemochromatosis
Iron
Mutation
Population
Genes