Viviana Balbi

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

Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism

Sofía Siffo, Ezequiela Adrover, Cintia E. Citterio et al. · Molecular and Cellular Endocrinology · 2017 · 31 citations · Full text

Medicine, Endocrinology, Molecular Genetics +14

Ehlers–Danlos Syndrome: Molecular and Clinical Characterization of <i>TNXA/TNXB</i> Chimeras in Congenital Adrenal Hyperplasia

Roxana Marino, Natalia Pérez Garrido, Pablo Ramírez et al. · The Journal of Clinical Endocrinology & Metabolism · 2021 · 22 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Characterization of Phosphatidylinositol Phosphate Kinases from the Moss Physcomitrella patens: PpPIPK1 and PpPIPK2

Laura Saavedra, Viviana Balbi, Stephen K. Dove et al. · Plant and Cell Physiology · 2009 · 20 citations

Life Sciences, Plant Biology, Plant Sciences +13

Thyroid hormone synthesis continues despite biallelic thyroglobulin mutation with cell death

Xiaohan Zhang, Aaron P. Kellogg, Cintia E. Citterio et al. · JCI Insight · 2021 · 18 citations · Full text

Life Sciences, Endocrinology, Genetics +17