Roxana Marino - Publications

Primary hyperparathyroidism in a child with tuberous sclerosis.

Journal: Archivos argentinos de pediatria

Published: January 06, 2026

A Novel POR G88S Mutation Causes Severe PORD and Establishes a Critical Pharmacogenomic Risk Profile.

Journal: The Journal of clinical endocrinology and metabolism

Published: September 10, 2025

A novel POR G88S mutation causes severe PORD and establishes a critical pharmacogenomic risk profile.

Journal: The Journal of clinical endocrinology and metabolism

Published: September 10, 2025

46,XX Testicular/Ovotesticular Disorders of Sexual Development: A Single-Center Retrospective Experience.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: June 19, 2025

Exploring the Association between Prenatal Growth and Differences in Sexual Development in Newborns.

Journal: Hormone research in paediatrics

Published: January 29, 2025

Clinical Impact of Genetic Alterations in Pediatric Papillary Thyroid Carcinoma: A Next-Generation Sequencing Study from Argentina.

Journal: Hormone research in paediatrics

Published: January 27, 2025

Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes.

Journal: The Journal of clinical endocrinology and metabolism

Published: February 08, 2024

Treatment with TRIAC in pediatric patients with MCT8.

Journal: Archivos argentinos de pediatria

Published: March 08, 2023

Molecular and functional study of pediatric patients with Niemann-Pick C in Argentina.

Journal: Medicina

Published: April 13, 2022

Gonadal tumor development in 46,XX disorders of gonadal development.

Journal: European journal of endocrinology

Published: March 30, 2022

A Surgical and Clinical Approach to Persistent Müllerian Duct Syndrome: Laparoscopic, Histological, and Molecular Findings.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: February 22, 2022

Flow invariants in a channel obstructed by a line of inclined rods.

Journal: Scientific reports

Published: December 16, 2021