Repositório Científico do Instituto Nacional de Saúde: Browsing DSpace

Issue Date	Title	Author(s)
Nov-2012	Autosomal Recessive Cerebellar Ataxia and Low Mitocondrial Complex III in a Portuguese Family	Nogueira, Célia; Nesti, Claudia; Meschini, Maria Chiara; Carrozzo, Rosalba; Barros, Jose; Sá, Maria José; Azevedo, Luisa; Vilarinho, Laura; Santorelli, Filippo
2011	Caracterização molecular do gene TPO em crianças Portuguesas com hipotiroidismo congénito causado por disormonogénese	Nogueira, Célia; Vaz Osório, Rui; Santos, Rosário; Jorge, Paula
Jun-2012	Identification of a novel TTC19 mutation in a Portuguese family with complex III deficiency	Nogueira, Célia; Barros, José; Sá, Maria José; Azevedo, Luisa; Santorelli, Filippo; Vilarinho, Laura
13-May-2011	Infantile-Onset Disorders of Mitochondrial Replication and Protein Synthesis	Nogueira, Célia; Carrozzo, Rosalba; Vilarinho, Laura; Santorelli, Filippo
2012	Leber’s hereditary optic neuropathy – Molecular study of 540 Portuguese patients	Esteves, Sofia; Nogueira, Célia; Evangelista, Teresinha; Encarnação, Marisa; Teixeira, Marco; Neiva, Raquel; Pereira, Cristina; Vilarinho, Laura
Nov-2011	MAT I/III deficiency in Portugal: high frequency of R264H mutation in a small area of Douro high lands	Marcão, Ana; Nogueira, Célia; Sousa, Carmen; Fonseca, Helena; Rocha, Hugo; Lopes, Lurdes; Martins, Esmeralda; Vilarinho, Laura
Mar-2008	Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula	Mangas, 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-2012	Molecular characterization of Methylmalonyl CoA mutase deficiency in patients identified through newborn screening	Marcão, Ana; Nogueira, Célia; Sousa, Carmen; Fonseca, Helena; Lopes, Maria de Lurdes; Rocha, Hugo; Vilarinho, Laura
Nov-2012	Molecular investigation of pediatric Portuguese patients with sensorineural hearing loss	Nogueira, Célia; Coutinho, Miguel; Pereira, Cristina; Tessa, Alessandra; Santorelli, Filippo; Vilarinho, Laura
23-Oct-2012	MPV17: fatal hepatocerebral presentation in a Brazilian infant	Nogueira, Célia; Souza, Carolina; Husny, A.; Derks, Terry; Santorelli, Filippo; Vilarinho, Laura
Nov-2012	A novel missense mutation in SUCLA2 associated with mild methylmalonic aciduria	Nogueira, Célia; Garcia, Paula; Diogo, Luisa; Valongo, Carla; Santorelli, Filippo; Vilarinho, Laura
2011	Prenatal diagnosis in severe cases: a new gain in Portuguese neonatal	Sousa, Carmen; Nogueira, Célia; Fonseca, Helena; Marcão, Ana; Rocha, Hugo; Lopes, Lurdes; Leão, Elisa; Garcia, Juliette; Couceiro, Ana Bela; Vilarinho, Laura

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