Search

Search results

55 results found

Functional Validation of an Alpha-Actinin-4 Mutation as a Potential Cause of an Aggressive Presentation of Adolescent Focal Segmental Glomerulosclerosis: Implications for Genetic Testing.

Feng, Di, Julia M Steinke, Ramaswamy Krishnan, Gabriel Birrane, and Martin R Pollak. 2016. “Functional Validation of an Alpha-Actinin-4 Mutation As a Potential Cause of an Aggressive Presentation of Adolescent Focal Segmental Glomerulosclerosis: Implications for Genetic Testing.”. PloS One 11 (12): e0167467.

Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.

Tischkowitz, Marc, Nancy Hamel, Marcelo A Carvalho, Gabriel Birrane, Aditi Soni, Erik H van Beers, Simon A Joosse, et al. 2008. “Pathogenicity of the BRCA1 Missense Variant M1775K Is Determined by the Disruption of the BRCT Phosphopeptide-Binding Pocket: A Multi-Modal Approach.”. European Journal of Human Genetics : EJHG 16 (7): 820-32.