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Repositório Científico do Instituto Nacional de Saúde >
Browsing by Author da Silva Santos, Liliana
Showing results 1 to 6 of 6
| Issue Date | Title | Author(s) | | Apr-2012 | Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient | Coutinho, Maria Francisca; da Silva Santos, Liliana; Lacerda, Lúcia; Quental, Sofia; Wibrand, F.; Lund, A.M.; Johansen, K.B.; Prata, Maria João; Alves, Sandra |
| 20-Oct-2011 | Alu-Alu recombination underlying the first large genomic deletion in GlcNAc-phosphotransferase α/β (GNPTAB) gene in a MLII α/β patient | Coutinho, Maria Francisca; da Silva Santos, Liliana; Lacerda, Lúcia; Quental, Sofia; Flemming, W; Lund, AM; Johansen, KB; Prata, Maria João; Alves, Sandra |
| Sep-2011 | Alu-Alu recombination underlying the first large genomic deletion in GlcNAc-phosphotransferase α/β (GNPTAB) gene in a MLII α/β patient [Poster] | Coutinho, Maria Francisca; da Silva Santos, Liliana; Lacerda, Lúcia; Flemming, Wibrand; Lund, Allan M; Johansen, Klaus B; Prata, Maria João; Alves, Sandra |
| Sep-2011 | Biochemical analysis of GNPTAB missense mutations associated with ML II | da Silva Santos, Liliana; Coutinho, Maria Francisca; Girisha, Katta Mohan; Lacerda, Lúcia; Tappino, Barbara; Stefano, Regis; Filocammo, Mirella; Prata, Maria João; Alves, Sandra |
| May-2012 | Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene | Coutinho, Maria Francisca; da Silva Santos, Liliana; Girisha, K.M.; Satyamoorthy, K.; Lacerda, Lúcia; Prata, Maria João; Alves, Sandra |
| Nov-2011 | Sortilin/Neurotensin Receptor 3: Three-dimensional Insights on its Coding Variants | Coutinho, Maria Francisca; da Silva Santos, Liliana; Lacerda, Lúcia; Macedo-Ribeiro, Sandra; Prata, Maria João; Alves, Sandra |
Showing results 1 to 6 of 6
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