Marta Ciaccio

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

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

Three novel <i>IGF1R</i> mutations in microcephalic patients with prenatal and postnatal growth impairment

Matías Juanes, Gabriela Guercio, Roxana Marino et al. · Clinical Endocrinology · 2014 · 47 citations

Two Novel Mutations of the TSH-β Subunit Gene Underlying Congenital Central Hypothyroidism Undetectable in Neonatal TSH Screening

María Sonia Baquedano, Marta Ciaccio, Noelia Dujovne et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 41 citations · Full text