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Repositório Científico do Instituto Nacional de Saúde >
Browsing by Author Santorelli, Filippo
Showing results 1 to 6 of 6
| 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 |
| 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 |
| 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 |
Showing results 1 to 6 of 6
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