Associated Papers
Genetic screening in a Brazilian cohort with inborn errors of immunity.
Ferreira CS et al.
Bmc Genomic Data, 2023
37592284 (PubMed )
Supplement: 12863_2023_1148_MOESM5_ESM.xlsx › Secondary_variants
The molecular mechanism of sialic acid transport mediated by Sialin.
Hu W et al.
Science Advances, 2023
36662855 (PubMed )
Supplement: sciadv.ade8346_sm.pdf
The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings.
Couce ML et al.
European Journal of Medical Genetics, 2014
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
Fernández-Marmiesse A et al.
Orphanet Journal of Rare Diseases, 2014
Select a paper to view details