Diana Mónica Warman

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 · 108 citations

Life Sciences, Endocrinology, Genetics +17

Three New SF-1 <i>(NR5A1) </i>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

Life Sciences, Genetics, Molecular Genetics +17

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 · 48 citations

Medicine, Genetics, Molecular Genetics +17

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

Life Sciences, Endocrinology, Genetics +17

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

Medicine, Endocrinology, Molecular Genetics +17