FONTANA, PAOLO
FONTANA, PAOLO
New insights in the interpretation of array-CGH: Autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants
2016 Cappuccio, Gerarda; Vitiello, Francesco; Casertano, Alberto; Fontana, Paolo; Genesio, Rita; Bruzzese, Dario; Ginocchio, virginia maria; Mormile, Angela; Nitsch, Lucio; Andria, Generoso; Melis, Daniela
Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome
2015 Genesio, Rita; Fontana, Paolo; Mormile, Angela; Casertano, Alberto; Falco, Mariateresa; Conti, Anna; Franzese, Adriana; Mozzillo, Enza; Nitsch, Lucio; Melis, Daniela
Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?
2017 Fontana, Paolo; Melis, D; D'Amico, Angelo; Cappuccio, G; Auletta, G; Vassallo, P; Genesio, Rita; Nitsch, L; Buffolano, W
Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome
2017 Casertano, Alberto; Fontana, Paolo; Hennekam, Raoul C.; Tartaglia, Marco; Genesio, Rita; Dieber, Tina Barbaro; Ortega, Lucia; Nitsch, Lucio; Melis, Daniela
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature
2022 Di Candia, Francesca; Fontana, Paolo; Paglia, Pamela; Falco, Mariateresa; Rosano, Carmen; Piscopo, Carmelo; Cappuccio, Gerarda; Siano, Maria Anna; De Brasi, Daniele; Mandato, Claudia; De Maggio, Ilaria; Squeo, Gabriella Maria; Monica, Matteo Della; Scarano, Gioacchino; Lonardo, Fortunato; Strisciuglio, Pietro; Merla, Giuseppe; Melis, Daniela
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| New insights in the interpretation of array-CGH: Autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants | 1.1 Articolo in rivista | 2016 | Cappuccio, Gerarda; Vitiello, Francesco; Casertano, Alberto; Fontana, Paolo; Genesio, Rita; Bruzzese, Dario; Ginocchio, virginia maria; Mormile, Angela; Nitsch, Lucio; Andria, Generoso; Melis, Daniela | |
| Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome | 1.1 Articolo in rivista | 2015 | Genesio, Rita; Fontana, Paolo; Mormile, Angela; Casertano, Alberto; Falco, Mariateresa; Conti, Anna; Franzese, Adriana; Mozzillo, Enza; Nitsch, Lucio; Melis, Daniela | |
| Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies? | 1.1 Articolo in rivista | 2017 | Fontana, Paolo; Melis, D; D'Amico, Angelo; Cappuccio, G; Auletta, G; Vassallo, P; Genesio, Rita; Nitsch, L; Buffolano, W | |
| Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome | 1.1 Articolo in rivista | 2017 | Casertano, Alberto; Fontana, Paolo; Hennekam, Raoul C.; Tartaglia, Marco; Genesio, Rita; Dieber, Tina Barbaro; Ortega, Lucia; Nitsch, Lucio; Melis, Daniela | |
| Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature | 1.1 Articolo in rivista | 2022 | Di Candia, Francesca; Fontana, Paolo; Paglia, Pamela; Falco, Mariateresa; Rosano, Carmen; Piscopo, Carmelo; Cappuccio, Gerarda; Siano, Maria Anna; De Brasi, Daniele; Mandato, Claudia; De Maggio, Ilaria; Squeo, Gabriella Maria; Monica, Matteo Della; Scarano, Gioacchino; Lonardo, Fortunato; Strisciuglio, Pietro; Merla, Giuseppe; Melis, Daniela |