A Long Contiguous Stretch of Homozygosity Disclosed a Novel STAG3 Biallelic Pathogenic Variant Causing Primary Ovarian Insufficiency: A Case Report and Review of the Literature

por Mellone, Simona, Zavattaro, Marco, Vurchio, Denise, Ronzani, Sara, Caputo, Marina, Leone, Ilaria, Prodam, Flavia, Giordano, Mara
Publicado 2021

Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia

por Mellone, Simona, Bertelli, Enrica, Roviglione, Barbara, Vurchio, Denise, Ronzani, Sara, Secco, Andrea, Felici, Enrico, Strozzi, Mariachiara Martina, Schena, Federico, Giordano, Mara
Publicado 2022

Retrospective Diagnosis of a Novel ACAN Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the Literature

por Mancioppi, Valentina, Prodam, Flavia, Mellone, Simona, Ricotti, Roberta, Giglione, Enza, Grasso, Nicolino, Vurchio, Denise, Petri, Antonella, Rabbone, Ivana, Giordano, Mara, Bellone, Simonetta
Publicado 2021

The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders

por Mellone, Simona, Puricelli, Chiara, Vurchio, Denise, Ronzani, Sara, Favini, Simone, Maruzzi, Arianna, Peruzzi, Cinzia, Papa, Amanda, Spano, Alice, Sirchia, Fabio, Mandrile, Giorgia, Pelle, Alessandra, Rasmini, Paolo, Vercellino, Fabiana, Zonta, Andrea, Rabbone, Ivana, Dianzani, Umberto, Viri, Maurizio, Giordano, Mara
Publicado 2022