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List of works by Maria João Sá

Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families

scientific article published on 13 October 2014

Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families.

scientific article published on 13 October 2014

Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome

scientific article published on 29 August 2017

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

scientific article published on 25 February 2015

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