Browsing by Author Nogueira, C.

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Showing results 1 to 7 of 7
Issue DateTitleAuthor(s)TypeAccess Type
Jun-2012"Double trouble” or digenic disorder in Complex I deficiencyAlmeida, L.S.; Ferreira, M.; Nogueira, C.; Furtado, F.; Evangelista, T.; Santorelli, F.M.; Vilarinho, L.conferenceObjectopenAccess
Dec-2016LPIN1 deficiency: A novel mutation associated with different phenotypes in the same familyNunes, D.; Nogueira, C.; Lopes, A.; Chaves, P.; Rodrigues, E.; Cardoso, T.; Leão Teles, E.; Vilarinho, L.articleopenAccess
Feb-2012Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High LandsMartins, E.; Marcão, A.; Bandeira, A.; Fonseca, H.; Nogueira, C.; Vilarinho, L.articleopenAccess
2011Molecular investigation of pediatric portuguese patients with sensorineural hearing lossNogueira, C.; Coutinho, M.; Pereira, C.; Tessa, A.; Santorelli, F.M.; Vilarinho, L.articleopenAccess
Mar-2017Molecular picture of cobalamin C/D defects before and after newborn screening eraNogueira, C.; Marcão, A.; Rocha, H.; Sousa, C.; Fonseca, H.; Valongo, C.; Vilarinho, L.articleembargoedAccess
May-2013Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiencyNogueira, C.; Barros, J.; Sá, M.J.; Azevedo L, L.; Taipa, R.; Torraco, A.; Meschini, M.C.; Verrigni, D.; Nesti, C.; Rizza, T.; Teixeira, João Paulo; Carrozzo, R.; Pires, M.M.; Vilarinho, L.; Santorelli, F.M.articleembargoedAccess
2012Nuclear-Mitochondrial Intergenomic Communication DisordersAlmeida, L.S.; Nogueira, C.; Vilarinho, L.bookPartopenAccess