R. Graça

发表论文 15 篇 · 总被引 51 次 · h-index 4

代表论文

Functional profiling of LDLR variants: Important evidence for variant classification: Functional profiling of LDLR variants. (2022 · Journal of Clinical Lipidology · 被引 21)
High-Throughput Microscopy Characterization of Rare LDLR Variants (2023 · JACC: Basic to Translational Science · 被引 18)
LDLR variants functional characterization: Contribution to variant classification. (2021 · Atherosclerosis · 被引 18)
Characterization of Two Variants at Met 1 of the Human LDLR Gene Encoding the Same Amino Acid but Causing Different Functional Phenotypes (2021 · Biomedicines · 被引 5)
Sitosterolemia in Iberoamerican countries: 16 new cases and phenotype genotype analysis. (2025 · Journal of Clinical Lipidology · 被引 4)
Functional data for LDLR variant classification: comparative insights from high-content microscopy and flow cytometry assays (2026 · medRxiv)