Laura Do Souto Ferreira
Nantes, France
Last Updated: 09/26/2026
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Found 8 publications
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
Journal: Nature communications
Published: December 18, 2024
Heterozygous alterations of GTF2I at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder.
Journal: Journal of medical genetics
Published: November 05, 2024
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Journal: Nature genetics
Published: October 02, 2024
Randall-Type Monoclonal IgE Kappa Light-Heavy Chain Deposition Disease.
Journal: Kidney international reports
Published: January 09, 2023
Showing 1-8 of 8
Last Updated: 09/26/2026