Sfoglia per Autore
Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations
2014-01-01 Notarangelo, Lucia Dora; Savoldi, Gianfranco; Cavagnini, Sara; Bennato, Veronica; Vasile, Sabrina; Pilotta, Alba; Plebani, Alessandro; Porta, Fulvio
SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement
2015-01-01 Magri, Chiara; Marchina, Eleonora; Bertini, Valeria; Traversa, Michele; Savio, Giulia; Pilotta, Alba; Piovani, Giovanna
Clinical and Laboratory Features of 184 Italian Pediatric Patients Affected with Selective IgA Deficiency (SIgAD): a Longitudinal Single-Center Study
2019-01-01 Lougaris, V.; Sorlini, A.; Monfredini, Chiara; Ingrasciotta, Giulia; Caravaggio, A.; Lorenzini, T.; Baronio, M.; Cattalini, M.; Meini, A.; Ruggeri, L.; Salpietro, A.; Pilotta, A.; Grazzani, Livia; Prandi, Elena; Felappi, B.; Gualdi, G.; Fabiano, A.; Fuoti, M.; Ravelli, A.; Villanacci, V.; Soresina, A.; Badolato, R.; Plebani, A.
Early onset of puberty during COVID-19 pandemic lockdown: Experience from two Pediatric Endocrinology Italian Centers
2023-01-01 Goffredo, M.; Pilotta, A.; Parissenti, I.; Forino, C.; Tomasi, C.; Goffredo, P.; Buzi, F.; Badolato, R.
Generation of human induced pluripotent stem cell lines derived from three Noonan syndrome patients from a single family carrying the heterozygous PTPN11 c.188 A > G (p.Y63C) mutation
2024-01-01 Sbrini, G.; Tomasoni, Z.; Cutrì, M. R.; Pilotta, A.; Mingotti, C.; Badolato, R.; La Via, L.; Barbon, A.; Bono, F.; Fiorentini, C.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations | 1-gen-2014 | Notarangelo, Lucia Dora; Savoldi, Gianfranco; Cavagnini, Sara; Bennato, Veronica; Vasile, Sabrina; Pilotta, Alba; Plebani, Alessandro; Porta, Fulvio | |
| SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement | 1-gen-2015 | Magri, Chiara; Marchina, Eleonora; Bertini, Valeria; Traversa, Michele; Savio, Giulia; Pilotta, Alba; Piovani, Giovanna | |
| Clinical and Laboratory Features of 184 Italian Pediatric Patients Affected with Selective IgA Deficiency (SIgAD): a Longitudinal Single-Center Study | 1-gen-2019 | Lougaris, V.; Sorlini, A.; Monfredini, Chiara; Ingrasciotta, Giulia; Caravaggio, A.; Lorenzini, T.; Baronio, M.; Cattalini, M.; Meini, A.; Ruggeri, L.; Salpietro, A.; Pilotta, A.; Grazzani, Livia; Prandi, Elena; Felappi, B.; Gualdi, G.; Fabiano, A.; Fuoti, M.; Ravelli, A.; Villanacci, V.; Soresina, A.; Badolato, R.; Plebani, A. | |
| Early onset of puberty during COVID-19 pandemic lockdown: Experience from two Pediatric Endocrinology Italian Centers | 1-gen-2023 | Goffredo, M.; Pilotta, A.; Parissenti, I.; Forino, C.; Tomasi, C.; Goffredo, P.; Buzi, F.; Badolato, R. | |
| Generation of human induced pluripotent stem cell lines derived from three Noonan syndrome patients from a single family carrying the heterozygous PTPN11 c.188 A > G (p.Y63C) mutation | 1-gen-2024 | Sbrini, G.; Tomasoni, Z.; Cutrì, M. R.; Pilotta, A.; Mingotti, C.; Badolato, R.; La Via, L.; Barbon, A.; Bono, F.; Fiorentini, C. |
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