GUIDA, Valentina
GUIDA, Valentina
Atrioventricular canal defect as partial expression of heterotaxia in patients with Bardet-Biedl syndrome
2019 Digilio, M Cristina; Calcagni, Giulio; De Luca, Alessandro; Guida, Valentina; Marino, Bruno
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome
2023 Piceci-Sparascio, Francesca; Micale, Lucia; Torres, Barbara; Guida, Valentina; Consoli, Federica; Torrente, Isabella; Onori, Annamaria; Frustaci, Emanuela; D'Asdia, Maria Cecilia; Petrizzelli, Francesco; Bernardini, Laura; Mancini, Cecilia; Soli, Fiorenza; Cocciadiferro, Dario; Guadagnolo, Daniele; Mastromoro, Gioia; Putotto, Carolina; Fontana, Franco; Brunetti-Pierri, Nicola; Novelli, Antonio; Pizzuti, Antonio; Marino, Bruno; Digilio, Maria Cristina; Mazza, Tommaso; Dallapiccola, Bruno; Ruiz-Perez, Victor Luis; Tartaglia, Marco; Castori, Marco; De Luca, Alessandro
Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients
2017 Margiotti, K; Pascolini, Giulia; Consoli, Federica; Guida, Valentina; DI BONAVENTURA, Carlo; Giallonardo, Anna Teresa; Pizzuti, Antonio; DE LUCA, Alessandro
Neonatal Marfan Syndrome by Inherited Mutation
2020 Mastromoro, Gioia; Guida, Valentina; Cellitti, Raffaella; Cardilli, Viviana; De Luca, Alessandro; Pizzuti, Antonio; Versacci, Paolo
Novel ATP2A2 gene mutation C.118g>A causing keratinocyte and cardiomyocyte disconnection in darier disease
2024 Frustaci, Andrea; De Luca, Alessandro; Verardo, Romina; Guida, Valentina; Alfarano, Maria; Calvieri, Camilla; Sansone, Luigi; Russo, Matteo Antonio; Chimenti, Cristina
Novel dilated cardiomyopathy associated to Calreticulin and Myo7A gene mutation in Usher syndrome
2021 Frustaci, Andrea; De Luca, Alessandro; Galea, Nicola; Verardo, Romina; Guida, Valentina; Carrozzo, Rosalba; Chimenti, Cristina; Frustaci, Emanuela; Sansone, Luigi; Russo, Matteo Antonio
Novel α-actin gene mutation p.(ala21val) causing familial hypertrophic cardiomyopathy, myocardial noncompaction, and transmural crypts. clinical-pathologic correlation
2018 Frustaci, Andrea; De Luca, Alessandro; Guida, Valentina; Biagini, Tommaso; Mazza, Tommaso; Gaudio, Carlo; Letizia, Claudio; Russo, Matteo Antonio; Galea, Nicola; Chimenti, Cristina
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Atrioventricular canal defect as partial expression of heterotaxia in patients with Bardet-Biedl syndrome | 2019 | Digilio, M Cristina; Calcagni, Giulio; De Luca, Alessandro; Guida, Valentina; Marino, Bruno | |
| Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome | 2023 | Piceci-Sparascio, Francesca; Micale, Lucia; Torres, Barbara; Guida, Valentina; Consoli, Federica; Torrente, Isabella; Onori, Annamaria; Frustaci, Emanuela; D'Asdia, Maria Cecilia; Petrizzelli, Francesco; Bernardini, Laura; Mancini, Cecilia; Soli, Fiorenza; Cocciadiferro, Dario; Guadagnolo, Daniele; Mastromoro, Gioia; Putotto, Carolina; Fontana, Franco; Brunetti-Pierri, Nicola; Novelli, Antonio; Pizzuti, Antonio; Marino, Bruno; Digilio, Maria Cristina; Mazza, Tommaso; Dallapiccola, Bruno; Ruiz-Perez, Victor Luis; Tartaglia, Marco; Castori, Marco; De Luca, Alessandro | |
| Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients | 2017 | Margiotti, K; Pascolini, Giulia; Consoli, Federica; Guida, Valentina; DI BONAVENTURA, Carlo; Giallonardo, Anna Teresa; Pizzuti, Antonio; DE LUCA, Alessandro | |
| Neonatal Marfan Syndrome by Inherited Mutation | 2020 | Mastromoro, Gioia; Guida, Valentina; Cellitti, Raffaella; Cardilli, Viviana; De Luca, Alessandro; Pizzuti, Antonio; Versacci, Paolo | |
| Novel ATP2A2 gene mutation C.118g>A causing keratinocyte and cardiomyocyte disconnection in darier disease | 2024 | Frustaci, Andrea; De Luca, Alessandro; Verardo, Romina; Guida, Valentina; Alfarano, Maria; Calvieri, Camilla; Sansone, Luigi; Russo, Matteo Antonio; Chimenti, Cristina | |
| Novel dilated cardiomyopathy associated to Calreticulin and Myo7A gene mutation in Usher syndrome | 2021 | Frustaci, Andrea; De Luca, Alessandro; Galea, Nicola; Verardo, Romina; Guida, Valentina; Carrozzo, Rosalba; Chimenti, Cristina; Frustaci, Emanuela; Sansone, Luigi; Russo, Matteo Antonio | |
| Novel α-actin gene mutation p.(ala21val) causing familial hypertrophic cardiomyopathy, myocardial noncompaction, and transmural crypts. clinical-pathologic correlation | 2018 | Frustaci, Andrea; De Luca, Alessandro; Guida, Valentina; Biagini, Tommaso; Mazza, Tommaso; Gaudio, Carlo; Letizia, Claudio; Russo, Matteo Antonio; Galea, Nicola; Chimenti, Cristina |