Natalia Pérez Garrido

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

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 · 86 citations · Full text

Life Sciences, Developmental Biology, 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

Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders

Sebastián Vishnopolska, María F. Mercogliano, María Andrea Camilletti et al. · The Journal of Clinical Endocrinology & Metabolism · 2021 · 38 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort

María Sol Touzón, Natalia Pérez Garrido, Roxana Marino et al. · Journal of Clinical Research in Pediatric Endocrinology · 2019 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17