Roxana Marino

Characterization of Immunodeficiency in a Patient With Growth Hormone Insensitivity Secondary to a Novel <i>STAT5b</i> Gene Mutation

Andrea Bernasconi, Roxana Marino, Alejandra Ribas et al. · PEDIATRICS · 2006 · 165 citations

Steroid 21‐hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype–phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia

Roxana Marino, Pablo Ramírez, Jesica Galeano et al. · Clinical Endocrinology · 2011 · 107 citations

Hypothalamic-Pituitary-Ovarian Axis during Infancy, Early and Late Prepuberty in an Aromatase-Deficient Girl Who Is a Compound Heterocygote for Two New Point Mutations of the CYP19 Gene

Alicia Belgorosky, Carolina Pepe, Roxana Marino et al. · The Journal of Clinical Endocrinology & Metabolism · 2003 · 96 citations · Full text

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 ( <i>WT1</i> ) gene

Caroline Eozénou, Nitzan Gonen, María Sol Touzón et al. · Proceedings of the National Academy of Sciences · 2020 · 84 citations · Full text

Unexpected Peripheral Markers of Thyroid Function in a Patient with a Novel Mutation of the MCT8 Thyroid Hormone Transporter Gene

Viviana Herzovich, Elisa Vaiani, Roxana Marino et al. · Hormone Research in Paediatrics · 2006 · 83 citations

Genetics, Pathology, Parathyroid Gland +17