Pablo Ramírez

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

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

Three New SF-1 &lt;i&gt;(NR5A1) &lt;/i&gt;Gene Mutations in Two Unrelated Families with Multiple Affected Members: Within-Family Variability in 46,XY Subjects and Low Ovarian Reserve in Fertile 46,XX Subjects

Diana Mónica Warman, Mariana Costanzo, Roxana Marino et al. · Hormone Research in Paediatrics · 2010 · 60 citations

Five New Cases of 46,XX Aromatase Deficiency: Clinical Follow-Up From Birth to Puberty, a Novel Mutation, and a Founder Effect

Roxana Marino, Natalia Pérez Garrido, Mariana Costanzo et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 38 citations · Full text