VURCHIO, Denise
VURCHIO, Denise
Integrating genome and transcriptome analysis to decipher balanced structural variants in unsolved cases of neurodevelopmental disorders
2025-01-01 Mellone, Simona; Spano, Alice; Vurchio, Denise; Borgonovi, Giulia; Ugonotti, Alessandro; Paglino, Giulia; Bianco, Alba; Ronzani, Sara; Sciancalepore, Maurizio; Prodam, Flavia; Papa, Amanda; Viri, Maurizio; Dianzani, Umberto; Giordano, Mara
Retrospective Diagnosis of a Novel ACAN Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the Literature
2021-01-01 Mancioppi, V.; Prodam, F.; Mellone, S.; Ricotti, R.; Giglione, E.; Grasso, N.; Vurchio, D.; Petri, A.; Rabbone, I.; Giordano, M.; Bellone, S.
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders
2022-01-01 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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Integrating genome and transcriptome analysis to decipher balanced structural variants in unsolved cases of neurodevelopmental disorders | 1-gen-2025 | Mellone, Simona; Spano, Alice; Vurchio, Denise; Borgonovi, Giulia; Ugonotti, Alessandro; Paglino, Giulia; Bianco, Alba; Ronzani, Sara; Sciancalepore, Maurizio; Prodam, Flavia; Papa, Amanda; Viri, Maurizio; Dianzani, Umberto; Giordano, Mara | |
| Retrospective Diagnosis of a Novel ACAN Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the Literature | 1-gen-2021 | Mancioppi, V.; Prodam, F.; Mellone, S.; Ricotti, R.; Giglione, E.; Grasso, N.; Vurchio, D.; Petri, A.; Rabbone, I.; Giordano, M.; Bellone, S. | |
| The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders | 1-gen-2022 | 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 |