MEDICINA MOLECULAR
Universidade de São Paulo
São Paulo, BrasilPublicacions en col·laboració amb investigadors/es de Universidade de São Paulo (3)
2022
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A truncating variant of RAD51B associated with primary ovarian insufficiency provides insights into its meiotic and somatic functions
Cell Death and Differentiation, Vol. 29, Núm. 12, pp. 2347-2361
2007
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Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: Haplotype analysis using intragenic thyroglobulin polymorphisms
Journal of Endocrinology, Vol. 195, Núm. 1, pp. 167-177
2005
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Nonsense-associated alternative splicing of the human thyroglobulin gene
Molecular Diagnosis, Vol. 9, Núm. 3, pp. 143-149