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Repositório Científico do Instituto Nacional de Saúde >
Browsing by Subject MLPA
Showing results 1 to 4 of 4
| Issue Date | Title | Author(s) | | Jul-2011 | Detection of subtelomeric rearrangements in 1180 patients: FISH and MLPA contribution | Mota Freitas, Manuela; Ribeiro, Joana; Candeias, Cristina; Lopes, Elisa; Oliveira, Fernanda Paula; Aguiar, Joaquim; Ribeiro, Maria Céu; Pires, Sílvia; Oliva Teles, Natália; Correia, Hildeberto; Fonseca Silva, Maria Luz |
| 2012 | Further contributions towards the molecular analysis of NIPBL and SMC1A genes in a cohort of patients with Cornelia de Lange Syndrome | Sousa, Mário; Oliveira, Jorge; Pinto da Costa, Eurico |
| Nov-2011 | Novel and rare large deletions in the globin gene clusters causing different types of thalassemia | Coelho, Andreia; Fernandes, Emília; Batalha-Reis, Ana; Sonesson, Annika; Picanço, Isabel; Miranda, Armandina; Faustino, Paula |
| Apr-2011 | A novel large alpha zero-thalassemia deletion found in a Portuguese 32 years old woman | Reis, Ana; Coelho, Andreia; Faustino, Paula; Reichert, Alice; Meireles, Flora; Brito, Ana; Miranda, Armandina; Matos, Susana; Júnior, Esmeraldina |
Showing results 1 to 4 of 4
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