SAVINO, EMANUELE
SAVINO, EMANUELE
Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2?
2022 Di Giosaffatte, Niccolò; Ferraris, Alessandro; Gaudioso, Federica; Lodato, Valentina; Savino, Emanuele; Celletti, Claudia; Camerota, Filippo; Bargiacchi, Simone; Laino, Luigi; Majore, Silvia; Bottillo, Irene; Grammatico, Paola
Germline heterozygous SH2B3 p.Glu78Lys variant: a three-patient case series with myeloproliferative neoplasms
2025 Iaquinta, Giovanni; Laganà, Alessandro; Tamburini, Anna; Tatarelli, Caterina; Chiusolo, Patrizia; Rossi, Elena; Rossi, Monica; Ragazzo, Michele; Savino, Emanuele; Breccia, Massimo; Grammatico, Paola
High-Throughput Molecular Characterization of the Microbiome in Breast Implant-Associated Anaplastic Large Cell Lymphoma and Peri-Implant Benign Seromas
2025 Rogges, Evelina; Bertolazzi, Giorgio; Vacca, Davide; Borro, Marina; Lopez, Gianluca; Simmaco, Maurizio; Scattone, Anna; Firmani, Guido; Sorotos, Michail; Santanelli Di Pompeo, Fabio; Noccioli, Niccolò; Savino, Emanuele; Vecchione, Andrea; Di Napoli, Arianna
Severe Bartter syndrome type 1: Prompt postnatal management thanks to antenatal identification of SLC12A1 pathogenic variants
2022 D'Angelantonio, D; Majore, S; Di Netta, T; Zotta, F; Parise, G; Savino, E; Rosignoli, S; Bizzarri, B; Signore, F; Grammatico, P; Bottillo, I
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
2023 Bottillo, Irene; Savino, Emanuele; Majore, Silvia; Mulargia, Claudia; Valiante, Michele; Ferraris, Alessandro; Rossi, Valentina; Svegliati, Francesca; Ciccone, Maria Pia; Brusco, Francesca; Grammatico, Barbara; Di Giacomo, Gianluca; Bargiacchi, Simone; D'Angelantonio, Daniela; Grammatico, Paola
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2? | 2022 | Di Giosaffatte, Niccolò; Ferraris, Alessandro; Gaudioso, Federica; Lodato, Valentina; Savino, Emanuele; Celletti, Claudia; Camerota, Filippo; Bargiacchi, Simone; Laino, Luigi; Majore, Silvia; Bottillo, Irene; Grammatico, Paola | |
| Germline heterozygous SH2B3 p.Glu78Lys variant: a three-patient case series with myeloproliferative neoplasms | 2025 | Iaquinta, Giovanni; Laganà, Alessandro; Tamburini, Anna; Tatarelli, Caterina; Chiusolo, Patrizia; Rossi, Elena; Rossi, Monica; Ragazzo, Michele; Savino, Emanuele; Breccia, Massimo; Grammatico, Paola | |
| High-Throughput Molecular Characterization of the Microbiome in Breast Implant-Associated Anaplastic Large Cell Lymphoma and Peri-Implant Benign Seromas | 2025 | Rogges, Evelina; Bertolazzi, Giorgio; Vacca, Davide; Borro, Marina; Lopez, Gianluca; Simmaco, Maurizio; Scattone, Anna; Firmani, Guido; Sorotos, Michail; Santanelli Di Pompeo, Fabio; Noccioli, Niccolò; Savino, Emanuele; Vecchione, Andrea; Di Napoli, Arianna | |
| Severe Bartter syndrome type 1: Prompt postnatal management thanks to antenatal identification of SLC12A1 pathogenic variants | 2022 | D'Angelantonio, D; Majore, S; Di Netta, T; Zotta, F; Parise, G; Savino, E; Rosignoli, S; Bizzarri, B; Signore, F; Grammatico, P; Bottillo, I | |
| Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability? | 2023 | Bottillo, Irene; Savino, Emanuele; Majore, Silvia; Mulargia, Claudia; Valiante, Michele; Ferraris, Alessandro; Rossi, Valentina; Svegliati, Francesca; Ciccone, Maria Pia; Brusco, Francesca; Grammatico, Barbara; Di Giacomo, Gianluca; Bargiacchi, Simone; D'Angelantonio, Daniela; Grammatico, Paola |