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Journal of Pediatric Endocrinology & Metabolism : JPEM|September 28, 2025
Noonan syndrome and autoimmune hepatitis: patient report and literature reviewAurora Pescini, Nina Tyutyusheva, Giuseppe Indolfi, et al.International Journal of Molecular Sciences|January 30, 2021
Complete Androgen Insensitivity Syndrome: From Bench to BedNina Tyutyusheva, Ilaria Mancini, Giampiero Igli Baroncelli, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|April 22, 2021
Management of patients with X-linked hypophosphatemic rickets during Covid-19 pandemic lockdownGiampiero I Baroncelli, Silvano Bertelloni, Mirna Cosci O Di Coscio, et al.Frontiers in Pediatrics|May 10, 2021
Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY KaryotypeSilvano Bertelloni, Nina Tyutyusheva, Margherita Valiani, et al.Endocrine, Metabolic & Immune Disorders Drug Targets|November 21, 2023
Hypoparathyroidism Associated with Benign Thyroid Nodules in DiGeorge-like Syndrome: A Rare Case Report and Literature ReviewClaudio Spinelli, Marco Ghionzoli, Carla Guglielmo, et al.Genes|November 25, 2023
In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 (DMRT1) in an SRY-Negative Boy with a 46,XX Disorder of Sex DevelopmentVeronica Bertini, Fulvia Baldinotti, Pietro Parma, et al.Genes|April 27, 2024
An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature ReviewAlessandro Orsini, Andrea Santangelo, Alessandra Carmignani, et al.Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|May 6, 2020
NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different OutcomesMaria F Faienza, Mariangela Chiarito, Fulvia Baldinotti, et al.The Journal of Clinical Endocrinology and Metabolism|November 3, 2025
Gonadal Function And Its Evolution In 46, XX Testicular/Ovotesticular DSDMargherita Sepich, Silvano Bertelloni, Nina Tyutyusheva, et al.Pageof 1