BERNARDINI, Laura
BERNARDINI, Laura
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature
2022 Nardecchia, F.; Caciotti, A.; Giovanniello, T.; De Leo, S.; Ferri, L.; Galosi, S.; Santagata, S.; Torres, B.; Bernardini, L.; Carducci, C.; Morrone, A.; Leuzzi, V.
A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3
2019 Mastrangelo, M.; Mei, D.; Cesario, S.; Fioriello, F.; Bernardini, L.; Brinciotti, M.; Guerrini, R.; Leuzzi, V.
Array-comparative genomic hybridization analysis in a cohort of 130 children with Autism Spectrum Disorders: A single Center Italian Study
2023 Martucci, M; Novelli, M; Scarselli, V; Di Palma, F; Fioriello, F; Bernardini, L; Aceti, F; Giacchetti, N; Sogos, C; Pizzuti, A
Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7
2018 Turco, Elisa Maria; Vinci, Ersilia; Altieri, Filomena; Ferrari, Daniela; Torres, Barbara; Goldoni, Marina; Lamorte, Giuseppe; Tata, Ada Maria; Mazzoccoli, Gianluigi; Postorivo, Diana; Della Monica, Matteo; Bernardini, Laura; Vescovi, Angelo Luigi; Rosati, Jessica
Epilepsy phenotype in patients with Xp22.31 microduplication
2018 Brinciotti, Mario; Fioriello, Francesca; Mittica, Antonio; Bernardini, Laura; Goldoni, Marina; Matricardi, Maria
Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage
2018 Bidollari, Eris; Rotundo, Giovannina; Ferrari, Daniela; Candido, Ornella; Bernardini, Laura; Consoli, Federica; De Luca, Alessandro; Santimone, Iolanda; Lamorte, Giuseppe; Ilari, Andrea; Squitieri, Ferdinando; Vescovi, Angelo Luigi; Rosati, Jessica
Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith–Magenis syndrome
2018 Altieri, Filomena; Turco, ELISA MARIA; Vinci, Ersilia; Torres, Barbara; Ferrari, Daniela; DE JACO, Antonella; Mazzoccoli, Gianluigi; Lamorte, Giuseppe; Nardone, Annamaria; Della Monica, Matteo; Bernardini, Laura; Luigi Vescovi, Angelo; Rosati, Jessica Diana
Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndrome
2021 Pontecorvi, P.; Bernardini, L.; Capalbo, A.; Ceccarelli, S.; Megiorni, F.; Vescarelli, E.; Bottillo, I.; Preziosi, N.; Fabbretti, M.; Perniola, G.; Benedetti Panici, P.; Pizzuti, A.; Grammatico, P.; Marchese, C.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature | 2022 | Nardecchia, F.; Caciotti, A.; Giovanniello, T.; De Leo, S.; Ferri, L.; Galosi, S.; Santagata, S.; Torres, B.; Bernardini, L.; Carducci, C.; Morrone, A.; Leuzzi, V. | |
| A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3 | 2019 | Mastrangelo, M.; Mei, D.; Cesario, S.; Fioriello, F.; Bernardini, L.; Brinciotti, M.; Guerrini, R.; Leuzzi, V. | |
| Array-comparative genomic hybridization analysis in a cohort of 130 children with Autism Spectrum Disorders: A single Center Italian Study | 2023 | Martucci, M; Novelli, M; Scarselli, V; Di Palma, F; Fioriello, F; Bernardini, L; Aceti, F; Giacchetti, N; Sogos, C; Pizzuti, A | |
| Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7 | 2018 | Turco, Elisa Maria; Vinci, Ersilia; Altieri, Filomena; Ferrari, Daniela; Torres, Barbara; Goldoni, Marina; Lamorte, Giuseppe; Tata, Ada Maria; Mazzoccoli, Gianluigi; Postorivo, Diana; Della Monica, Matteo; Bernardini, Laura; Vescovi, Angelo Luigi; Rosati, Jessica | |
| Epilepsy phenotype in patients with Xp22.31 microduplication | 2018 | Brinciotti, Mario; Fioriello, Francesca; Mittica, Antonio; Bernardini, Laura; Goldoni, Marina; Matricardi, Maria | |
| Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage | 2018 | Bidollari, Eris; Rotundo, Giovannina; Ferrari, Daniela; Candido, Ornella; Bernardini, Laura; Consoli, Federica; De Luca, Alessandro; Santimone, Iolanda; Lamorte, Giuseppe; Ilari, Andrea; Squitieri, Ferdinando; Vescovi, Angelo Luigi; Rosati, Jessica | |
| Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith–Magenis syndrome | 2018 | Altieri, Filomena; Turco, ELISA MARIA; Vinci, Ersilia; Torres, Barbara; Ferrari, Daniela; DE JACO, Antonella; Mazzoccoli, Gianluigi; Lamorte, Giuseppe; Nardone, Annamaria; Della Monica, Matteo; Bernardini, Laura; Luigi Vescovi, Angelo; Rosati, Jessica Diana | |
| Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndrome | 2021 | Pontecorvi, P.; Bernardini, L.; Capalbo, A.; Ceccarelli, S.; Megiorni, F.; Vescarelli, E.; Bottillo, I.; Preziosi, N.; Fabbretti, M.; Perniola, G.; Benedetti Panici, P.; Pizzuti, A.; Grammatico, P.; Marchese, C. |