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Repositório Científico do Instituto Nacional de Saúde >
Browsing by Author Vilarinho, Laura
Showing results 11 to 26 of 26
| Issue Date | Title | Author(s) | | 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 |
| 1-Jan-2010 | Identification of novel L2HGDH gene mutations and update of the pathological spectrum | Vilarinho, Laura; Tafulo, Sandra; Sibilio, Michelina; Kok, Fernando; Fontana, Federica; Diogo, Luisa; Venâncio, Margarida; Ferreira, Mariana; Nogueira, Celia; Valongo, Carla; Parenti, Giancarlo; Amorim, António; Azevedo, Luisa |
| Aug-2010 | Incidence of maple syrup urine disease in Portugal | Quental, Sofia; Vilarinho, Laura; Martins, Esmeralda; Teles, Elisa Leão; Rodrigues, Esmeralda; Diogo, Luísa; Garcia, Paula; Eusébio, Filomena; Gaspar, Ana; Sequeira, Sílvia; Amorim, António; Prata, Maria João |
| 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 |
| 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 |
| Nov-2012 | Programa Nacional de Diagnóstico Precoce em Portugal- Casuística de 2011 | Lopes, Lurdes; Sousa, Carmen; Fonseca, Helena; Carvalho, Ivone; Marcão, Ana; Rocha, Hugo; Vilarinho, Laura |
| Sep-2012 | Programa Nacional de Diagnóstico Precoce: Relatório 2011 | Vilarinho, Laura; Vaz Osório, Rui |
| 28-Mar-2012 | A Rare Disease Patient Manager | Lopes, Pedro; Mendonça, Rafael; Rocha, Hugo; Oliveira, Jorge; Vilarinho, Laura; Santos, Rosário; Oliveira, José |
| 28-Mar-2012 | A Rare Disease Patient Manager | Lopes, Pedro; Mendonça, Rafael; Rocha, Hugo; Oliveira, Jorge; Vilarinho, Laura; Santos, Rosário; Oliveira, José |
| 8-Oct-2012 | Rastreio Neonatal Metabólico do Séc. XXI | Vilarinho, Laura |
Showing results 11 to 26 of 26
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