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Author Title [ Type(Asc)] Year
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Journal Article
Santos, R., Oliveira, J., Vieira, E., Coelho, T., et al. (2010). Private dysferlin exon skipping mutation (c.5492G > A) with a founder effect reveals further alternative splicing involving exons 49-51. Journal of Human Genetics, 55(8), 546 - 549.
Ribeiro, S., Faria, M. D. S., Silva, G., Nascimento, H., et al. (2012). Oxidized low-density lipoprotein and lipoprotein(a) levels in chronic kidney disease patients under hemodialysis: Influence of adiponectin and of a polymorphism in the apolipoprotein(a) gene. Hemodialysis International, 16(4), 481 - 490.
Vernengo, L., Oliveira, J., Krahn, M., Vieira, E., et al. (2011). Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America. Neuromuscular Disorders, 21(5), 328 - 337.
Oliveira, J., Santos, R., Soares-Silva, I., Jorge, P., et al. (2008). LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. Clinical Genetics, 74(6), 502 - 512.
Rodrigues, C., Vieira, E., Santos, R., de Carvalho, J., et al. (2012). Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects. Blood Cells, Molecules, and Diseases, 48(3), 166 - 172.
Seixas, A. I., Vale, J., Jorge, P., Marques, I., et al. (2011). FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes. Behavioral and Brain Functions, 7.
Azevedo, E., Santos, R., Freitas, J., Rosas, M. - J., et al. (2010). Deep brain stimulation does not change neurovascular coupling in non-motor visual cortex: An autonomic and visual evoked blood flow velocity response study. Parkinsonism and Related Disorders, 16(9), 600 - 603.
Maia, N., Loureiro, J. R., Oliveira, B., Marques, I., et al. (2017). Contraction of fully expanded FMR1 alleles to the normal range: Predisposing haplotype or rare events?. Journal of Human Genetics, 62(2), 269 - 275.
Rodrigues, C., Rocha, S., Nascimento, H., Vieira, E., et al. (2013). Bilirubin levels and redox status in a young healthy population. Acta Haematologica, 130(1), 57 - 60.

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