Maura Agostini

发表论文 65 篇 · 总被引 4985 次 · h-index 27

代表论文

Human Metabolic Syndrome Resulting From Dominant-Negative Mutations in the Nuclear Receptor Peroxisome Proliferator-Activated Receptor-γ (2003 · Diabetes · 被引 433)
A Mutation in the Thyroid Hormone Receptor Alpha Gene (2012 · UCL Discovery (University College London) · 被引 330)
Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans (2010 · Journal of Clinical Investigation · 被引 317)
Prospective functional classification of all possible missense variants in PPARG (2016 · Nature Genetics · 被引 277)
Non-DNA binding, dominant-negative, human PPARγ mutations cause lipodystrophic insulin resistance (2006 · Cell Metabolism · 被引 184)
An Adult Female With Resistance to Thyroid Hormone Mediated by Defective Thyroid Hormone Receptor α (2013 · The Journal of Clinical Endocrinology & Metabolism · 被引 142)