No photo of João Manuel da Silva Gonçalves
  • Rua Câmara Pestana Edifício CEDOC II - Nº6 1150-082 LISBOA

    Portugal

  • 7 Citations
  • 1 h-Index
20162019

Research output per year

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Research Output at NOVA

  • 7 Citations
  • 1 h-Index
  • 2 Article
  • 1 Meeting Abstract
2019

Congenital adrenal hyperplasia in paediatric age <:> molecular analysis of the CYP21A2 gene and implications for genetic counselling

Gomes, S., Silva, J., Pereira-Caetano, I., Lopes, L., Limbert, C., Amaral, D., Pina, R., Kay, T., Sampaio, L., Pereira, C., Moldovan, O., Sousa, A. B., Rebelo, I., Gaspar, I., Rodrigues, J. C., Ramos, F., Ramos, L., Dinis, I., Cardoso, R. C., Mirante, A. & 1 others, Goncalves, J., Jul 2019, In : European Journal of Human Genetics. 27, p. 483-483

Research output: Contribution to journalMeeting Abstract

2017

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
15 Downloads (Pure)
2016

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

7 Citations (Scopus)