AMBROSIO, ADELAIDE
AMBROSIO, ADELAIDE
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis
2024 Fioretti, Tiziana; Martora, Fabrizio; De Maggio, Ilaria; Ambrosio, Adelaide; Piscopo, Carmelo; Vallone, Sabrina; Amato, Felice; Passaro, Diego; Acquaviva, Fabio; Gaudiello, Francesca; Di Girolamo, Daniela; Maiolo, Valeria; Zarrilli, Federica; Esposito, Speranza; Vitiello, Giuseppina; Auricchio, Luigi; Sammarco, Elena; Brasi, Daniele De; Petillo, Roberta; Gambale, Antonella; Cattaneo, Fabio; Ammendola, Rosario; Nappa, Paola; Esposito, Gabriella
Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients
2020 Fioretti, Tiziana; Auricchio, Luigi; Piccirillo, Angelo; Vitiello, Giuseppina; Ambrosio, Adelaide; Cattaneo, Fabio; Ammendola, Rosario; Esposito, Gabriella
De Novo Large Deletions in the PHEX Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab
2023 Pecoraro, Carmine; Fioretti, Tiziana; Perruno, Assunta; Klain, Antonella; Cioffi, Daniela; Ambrosio, Adelaide; Passaro, Diego; ANNICCHIARICO PETRUZZELLI, Luigi; DI DOMENICO, Carmela; de Girolamo, Domenico; Vallone, Sabrina; Cattaneo, Fabio; Ammendola, Rosario; Esposito, Gabriella
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis | 1.1 Articolo in rivista | 2024 | Fioretti, Tiziana; Martora, Fabrizio; De Maggio, Ilaria; Ambrosio, Adelaide; Piscopo, Carmelo; Vallone, Sabrina; Amato, Felice; Passaro, Diego; Acquaviva, Fabio; Gaudiello, Francesca; Di Girolamo, Daniela; Maiolo, Valeria; Zarrilli, Federica; Esposito, Speranza; Vitiello, Giuseppina; Auricchio, Luigi; Sammarco, Elena; Brasi, Daniele De; Petillo, Roberta; Gambale, Antonella; Cattaneo, Fabio; Ammendola, Rosario; Nappa, Paola; Esposito, Gabriella | |
| Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients | 1.1 Articolo in rivista | 2020 | Fioretti, Tiziana; Auricchio, Luigi; Piccirillo, Angelo; Vitiello, Giuseppina; Ambrosio, Adelaide; Cattaneo, Fabio; Ammendola, Rosario; Esposito, Gabriella | |
| De Novo Large Deletions in the PHEX Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab | 1.1 Articolo in rivista | 2023 | Pecoraro, Carmine; Fioretti, Tiziana; Perruno, Assunta; Klain, Antonella; Cioffi, Daniela; Ambrosio, Adelaide; Passaro, Diego; ANNICCHIARICO PETRUZZELLI, Luigi; DI DOMENICO, Carmela; de Girolamo, Domenico; Vallone, Sabrina; Cattaneo, Fabio; Ammendola, Rosario; Esposito, Gabriella |