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Showing results 1 to 18 of 18
Issue DateTitleAuthor(s)
Nov-2012Autosomal Recessive Cerebellar Ataxia and Low Mitocondrial Complex III in a Portuguese FamilyNogueira, Célia; Nesti, Claudia; Meschini, Maria Chiara; Carrozzo, Rosalba; Barros, Jose; Sá, Maria José; Azevedo, Luisa; Vilarinho, Laura; Santorelli, Filippo
Sep-2013Biochemical data as important clues for diagnosis of SUCLA2 defectsNogueira, Célia; Garcia, Paula; Diogo, Luisa; Valongo, Carla; Santorelli, Filippo; Vilarinho, Laura
2011Caracterização molecular do gene TPO em crianças Portuguesas com hipotiroidismo congénito causado por disormonogéneseNogueira, Célia; Vaz Osório, Rui; Santos, Rosário; Jorge, Paula
Sep-2013Complex III deficiency in a Portuguese family: expanding the clinical phenotypeNogueira, Célia; Nesti, Claudia; Meschini, M. Clara; Carrozzo, Rosalba; Barros, José; Sá, Maria José; Azevedo, Luisa; Santorelli, Filippo; Vilarinho, Laura
Jun-2012Identification of a novel TTC19 mutation in a Portuguese family with complex III deficiencyNogueira, Célia; Barros, José; Sá, Maria José; Azevedo, Luisa; Santorelli, Filippo; Vilarinho, Laura
Dec-2013Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndromeNogueira, Célia; Sales Marques, Jorge; Nesti, Claudia; Azevedo, Luisa; Di Lullo, Martina; Meschini, M. Clara; Santorelli, Filippo; Vilarinho, Laura
13-May-2011Infantile-Onset Disorders of Mitochondrial Replication and Protein SynthesisNogueira, Célia; Carrozzo, Rosalba; Vilarinho, Laura; Santorelli, Filippo
Dec-2013Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL geneAntunes, Antonio; Nogueira, Célia; Rocha, Hugo; Vilarinho, Laura; Evangelista, Teresinha
2012Leber’s hereditary optic neuropathy – Molecular study of 540 Portuguese patientsEsteves, Sofia; Nogueira, Célia; Evangelista, Teresinha; Encarnação, Marisa; Teixeira, Marco; Neiva, Raquel; Pereira, Cristina; Vilarinho, Laura
Nov-2011MAT I/III deficiency in Portugal: high frequency of R264H mutation in a small area of Douro high landsMarcão, Ana; Nogueira, Célia; Sousa, Carmen; Fonseca, Helena; Rocha, Hugo; Lopes, Lurdes; Martins, Esmeralda; Vilarinho, Laura
Mar-2008Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian PeninsulaMangas, Mariana; Nogueira, Célia; Prata, Maria João; Lacerda, Lúcia; Coll, M.J.; Soares, Gabriela; Ribeiro, Gil; Amaral, Olga; Ferreira, Célia; Alves, C.; Coutinho, Maria Francisca; Alves, Sandra
Nov-2012Molecular characterization of Methylmalonyl CoA mutase deficiency in patients identified through newborn screeningMarcão, Ana; Nogueira, Célia; Sousa, Carmen; Fonseca, Helena; Lopes, Maria de Lurdes; Rocha, Hugo; Vilarinho, Laura
Nov-2012Molecular investigation of pediatric Portuguese patients with sensorineural hearing lossNogueira, Célia; Coutinho, Miguel; Pereira, Cristina; Tessa, Alessandra; Santorelli, Filippo; Vilarinho, Laura
Mar-2013MPV17: fatal hepatocerebral presentationNogueira, Célia; Souza, Carolina; Husny, Antonette; Derks, Terry; Santorelli, Filippo; Vilarinho, Laura
23-Oct-2012MPV17: fatal hepatocerebral presentation in a Brazilian infantNogueira, Célia; Souza, Carolina; Husny, A.; Derks, Terry; Santorelli, Filippo; Vilarinho, Laura
Nov-2012A novel missense mutation in SUCLA2 associated with mild methylmalonic aciduriaNogueira, Célia; Garcia, Paula; Diogo, Luisa; Valongo, Carla; Santorelli, Filippo; Vilarinho, Laura
Jun-2013A novel SUCLA2 mutation in a Portuguese patientNogueira, Célia; Garcia, Paula; Diogo, Luísa; Valongo, Carla; Santorelli, Filippo; Vilarinho, Laura
2011Prenatal diagnosis in severe cases: a new gain in Portuguese neonatalSousa, Carmen; Nogueira, Célia; Fonseca, Helena; Marcão, Ana; Rocha, Hugo; Lopes, Lurdes; Leão, Elisa; Garcia, Juliette; Couceiro, Ana Bela; Vilarinho, Laura
Showing results 1 to 18 of 18

 

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