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1دورية أكاديمية
المؤلفون: Encarnação, Marisa, Coutinho, Maria Francisca, Silva, Lisbeth, Ribeiro, Diogo, Ouesleti, Souad, Campos, Teresa, Santos, Helena, Martins, Esmeralda, Cardoso, Maria Teresa, Vilarinho, Laura, Alves, Sandra
مصطلحات موضوعية: CLN7, GM2 Gangliosidosis, GM2A gene, bioinformatics analysis, diagnostics odyssey, lysosomal storage diseases (LSDs), molecular genetic testing (MGT), next-generation sequencing (NGS)
العلاقة: https://www.mdpi.com/1422-0067/21/17/6355Test; Encarnação M, Coutinho MF, Silva L, et al. Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants. Int J Mol Sci. 2020;21(17):6355. doi:10.3390/ijms21176355; http://hdl.handle.net/10400.16/2650Test
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2دورية أكاديمية
المؤلفون: Pereira, C., Pérez-Cabezas, B., Ribeiro, H., Maia, M., Cardoso, M., Dias, A., Azevedo, O., Ferreira, M., Garcia, P., Rodrigues, E., Castro-Chaves, P., Martins, Esmeralda, Aguiar, P., Pineda, M., Amraoui, Y., Fecarotta, S., Leão-Teles, E., Deng, S., Savage, P., Macedo, M.
مصطلحات موضوعية: CD1b, CD1d, dendritic cells, lipid antigen presentation, lysosomal storage diseases, monocytes, natural killer T cells
العلاقة: https://www.frontiersin.org/articles/10.3389/fimmu.2019.01264/fullTest; Pereira CS, Pérez-Cabezas B, Ribeiro H, et al. Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients. Front Immunol. 2019;10:1264. Published 2019 Jun 4. doi:10.3389/fimmu.2019.01264; http://hdl.handle.net/10400.16/2380Test