La descrizione delle risorse bibliografiche in linked data
2021 Maio, Tania
Potential Impact of Microbial Variations After Peri-Implantitis Treatment on Peri-Implant Clinical, Radiographic, and Crevicular Parameters: A Systematic Review
2024 Di Spirito, Federica; Pisano, Massimo; Di Palo, Maria Pia; Salzano, Flora; Rupe, Antonio; Fiorino, Antonino; Rengo, Carlo
The role of unidentified bright objects in the neurocognitive profile of neurofibromatosis type 1 children: a volumetric MRI analysis
2024 Di Stasi, Martina; Cocozza, Sirio; Buccino, Sara; Paolella, Chiara; Di Napoli, Linda; D'Amico, Alessandra; Melis, Daniela; Ugga, Lorenzo; Villano, Gianmichele; Ruocco, Manuel; Scala, Iris; Brunetti, Arturo; Elefante, Andrea
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques
2022 Carli, Diana; Operti, Matteo; Russo, Silvia; Cocchi, Guido; Milani, Donatella; Leoni, Chiara; Prada, Elisabetta; Melis, Daniela; Falco, Mariateresa; Spina, Jennifer; Uliana, Vera; Sara, Osimani; Sirchia, Fabio; Tarani, Luigi; Macchiaiolo, Marina; Cerrato, Flavia; Sparago, Angela; Pignata, Laura; Tannorella, Pierpaola; Cardaropoli, Simona; Bartuli, Andrea; Riccio, Andrea; Ferrero, Giovanni Battista; Mussa, Alessandro
A specific serum lipid signature characterizes patients with glycogen storage disease type Ia
2024 Rossi, Alessandro; Ruoppolo, Margherita; Fedele, Roberta; Pirozzi, Francesca; Rosano, Carmen; Auricchio, Renata; Melis, Daniela; Strisciuglio, Pietro; Oosterveer, Maaike H; Derks, Terry G J; Parenti, Giancarlo; Caterino, Marianna
Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
2023 Rossi, Alessandro; Assunto, Antonia; Rosano, Carmen; Tucci, Sara; Ruoppolo, Margherita; Caterino, Marianna; Pirozzi, Francesca; Strisciuglio, Pietro; Parenti, Giancarlo; Melis, Daniela
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies
2022 Kerkhof, Jennifer; Squeo, Gabriella Maria; Mcconkey, Haley; Levy, Michael A; Piemontese, Maria Rosaria; Castori, Marco; Accadia, Maria; Biamino, Elisa; Della Monica, Matteo; Di Giacomo, Marilena Carmela; Gervasini, Cristina; Maitz, Silvia; Melis, Daniela; Milani, Donatella; Piccione, Maria; Prontera, Paolo; Selicorni, Angelo; Sadikovic, Bekim; Merla, Giuseppe
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline
2024 Wood, Katherine A; Tong, R Spencer; Motta, Marialetizia; Cordeddu, Viviana; Scimone, Eleanor R; Bush, Stephen J; Maxwell, Dale W; Giannoulatou, Eleni; Caputo, Viviana; Traversa, Alice; Mancini, Cecilia; Ferrero, Giovanni B; Benedicenti, Francesco; Grammatico, Paola; Melis, Daniela; Steindl, Katharina; Brunetti-Pierri, Nicola; Trevisson, Eva; Wilkie, Andrew Om; Lin, Angela E; Cormier-Daire, Valerie; Twigg, Stephen Rf; Tartaglia, Marco; Goriely, Anne
Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet)
2024 Rossini, Linda; Ricci, Silvia; Montin, Davide; Azzari, Chiara; Gambineri, Eleonora; Tellini, Marco; Conti, Francesca; Pession, Andrea; Saettini, Francesco; Naviglio, Samuele; Valencic, Erica; Magnolato, Andrea; Baselli, Lucia; Azzolini, Sara; Consolini, Rita; Leonardi, Lucia; D'Alba, Irene; Carraro, Elisa; Romano, Roberta; Melis, Daniela; Stagi, Stefano; Cirillo, Emilia; Giardino, Giuliana; Biffi, Alessandra; Pignata, Claudio; Putti, Maria Caterina; Marzollo, Antonio
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants
2023 Priolo, Manuela; Zara, Erika; Radio, Francesca Clementina; Ciolfi, Andrea; Spadaro, Francesca; Bellacchio, Emanuele; Mancini, Cecilia; Pantaleoni, Francesca; Cordeddu, Viviana; Chiriatti, Luigi; Niceta, Marcello; Africa, Emilio; Mammì, Corrado; Melis, Daniela; Coppola, Simona; Tartaglia, Marco
Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care
2024 Rossi, Alessandro; Simeoli, Chiara; Pivonello, Rosario; Salerno, Mariacarolina; Rosano, Carmen; Brunetti, Barbara; Strisciuglio, Pietro; Colao, Annamaria; Parenti, Giancarlo; Melis, Daniela; Derks, Terry G J
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules
2024 Mastromoro, Gioia; Santoro, Claudia; Motta, Marialetizia; Sorrentino, Ugo; Daniele, Paola; Peduto, Cristina; Petrizzelli, Francesco; Tripodi, Martina; Pinna, Valentina; Zanobio, Mariateresa; Rotundo, Giovannina; Bellacchio, Emanuele; Lepri, Francesca; Farina, Antonella; D'Asdia, Maria Cecilia; Piceci-Sparascio, Francesca; Biagini, Tommaso; Petracca, Antonio; Castori, Marco; Melis, Daniela; Accadia, Maria; Traficante, Giovanna; Tarani, Luigi; Fontana, Paolo; Sirchia, Fabio; Paparella, Roberto; Currò, Aurora; Benedicenti, Francesco; Scala, Iris; Dentici, Maria Lisa; Leoni, Chiara; Trevisan, Valentina; Cecconi, Antonella; Giustini, Sandra; Pizzuti, Antonio; Salviati, Leonardo; Novelli, Antonio; Zampino, Giuseppe; Zenker, Martin; Genuardi, Maurizio; Digilio, Maria Cristina; Papi, Laura; Perrotta, Silverio; Nigro, Vincenzo; Castellanos, Elisabeth; Mazza, Tommaso; Trevisson, Eva; Tartaglia, Marco; Piluso, Giulio; De Luca, Alessandro
FOXI3 pathogenic variants cause one form of craniofacial microsomia
2023 Mao, K.; Borel, C.; Ansar, M.; Jolly, A.; Makrythanasis, P.; Froehlich, C.; Iwaszkiewicz, J.; Wang, B.; Xu, X.; Li, Q.; Blanc, X.; Zhu, H.; Chen, Q.; Jin, F.; Ankamreddy, H.; Singh, S.; Zhang, H.; Wang, X.; Chen, P.; Ranza, E.; Paracha, S. A.; Shah, S. F.; Guida, V.; Piceci-Sparascio, F.; Melis, D.; Dallapiccola, B.; Digilio, M. C.; Novelli, A.; Magliozzi, M.; Fadda, M. T.; Streff, H.; Machol, K.; Lewis, R. A.; Zoete, V.; Squeo, G. M.; Prontera, P.; Mancano, G.; Gori, G.; Mariani, M.; Selicorni, A.; Psoni, S.; Fryssira, H.; Douzgou, S.; Marlin, S.; Biskup, S.; De Luca, A.; Merla, G.; Zhao, S.; Cox, T. C.; Groves, A. K.; Lupski, J. R.; Zhang, Q.; Zhang, Y. -B.; Antonarakis, S. E.
Development of Definitory and Classificatory Thinking in Geometry through Storytelling and GBL Activities
2024 Tortorelli, Leonardo; Tortoriello, Francesco Saverio
Enormous Out-of-Plane Charge Rectification and Conductance through Two-Dimensional Monolayers
2025 Cabanillas, Anthony; Shahi, Simran; Liu, Maomao; Jaiswal, Hemendra Nath; Wei, Sichen; Fu, Yu; Chakravarty, Anindita; Ahmed, Asma; Liu, Xiaochi; Sun, Jian; Yang, Cheng; Yoo, Won Jong; Knobloch, Theresia; Perebeinos, Vasili; Di Bartolomeo, Antonio; Grasser, Tibor; Yao, Fei; Li, Huamin
Software engineering education: Results from a training intervention based on SonarCloud when developing web apps
2025 Nocera, S.; Romano, S.; Francese, R.; Scanniello, G.
Constructions and lower bounds for evolving 2-threshold secret sharing schemes
2025 D'Arco, Paolo; Prisco, Roberto De; Santis, Alfredo De
Reply to a Letter to the Editor on Comparative performance of fully-automated and semi-automated artificial intelligence methods for the detection of clinically significant prostate cancer on MRI: a systematic review
2024 Sushentsev, N.; Barrett, T.; Rundo, L.
Image biomarkers and explainable AI: handcrafted features versus deep learned features
2024 Rundo, L.; Militello, C.
IMPA-Net: Interpretable Multi-Part Attention Network for Trustworthy Brain Tumor Classification from MRI
2024 Xie, Y.; Zaccagna, F.; Rundo, L.; Testa, C.; Zhu, R.; Tonon, C.; Lodi, R.; Manners, D. N.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| La descrizione delle risorse bibliografiche in linked data | 1-gen-2021 | Maio, Tania | |
| Potential Impact of Microbial Variations After Peri-Implantitis Treatment on Peri-Implant Clinical, Radiographic, and Crevicular Parameters: A Systematic Review | 1-gen-2024 | Di Spirito, Federica; Pisano, Massimo; Di Palo, Maria Pia; Salzano, Flora; Rupe, Antonio; Fiorino, Antonino; Rengo, Carlo | |
| The role of unidentified bright objects in the neurocognitive profile of neurofibromatosis type 1 children: a volumetric MRI analysis | 1-gen-2024 | Di Stasi, Martina; Cocozza, Sirio; Buccino, Sara; Paolella, Chiara; Di Napoli, Linda; D'Amico, Alessandra; Melis, Daniela; Ugga, Lorenzo; Villano, Gianmichele; Ruocco, Manuel; Scala, Iris; Brunetti, Arturo; Elefante, Andrea | |
| Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques | 1-gen-2022 | Carli, Diana; Operti, Matteo; Russo, Silvia; Cocchi, Guido; Milani, Donatella; Leoni, Chiara; Prada, Elisabetta; Melis, Daniela; Falco, Mariateresa; Spina, Jennifer; Uliana, Vera; Sara, Osimani; Sirchia, Fabio; Tarani, Luigi; Macchiaiolo, Marina; Cerrato, Flavia; Sparago, Angela; Pignata, Laura; Tannorella, Pierpaola; Cardaropoli, Simona; Bartuli, Andrea; Riccio, Andrea; Ferrero, Giovanni Battista; Mussa, Alessandro | |
| A specific serum lipid signature characterizes patients with glycogen storage disease type Ia | 1-gen-2024 | Rossi, Alessandro; Ruoppolo, Margherita; Fedele, Roberta; Pirozzi, Francesca; Rosano, Carmen; Auricchio, Renata; Melis, Daniela; Strisciuglio, Pietro; Oosterveer, Maaike H; Derks, Terry G J; Parenti, Giancarlo; Caterino, Marianna | |
| Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia | 1-gen-2023 | Rossi, Alessandro; Assunto, Antonia; Rosano, Carmen; Tucci, Sara; Ruoppolo, Margherita; Caterino, Marianna; Pirozzi, Francesca; Strisciuglio, Pietro; Parenti, Giancarlo; Melis, Daniela | |
| DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies | 1-gen-2022 | Kerkhof, Jennifer; Squeo, Gabriella Maria; Mcconkey, Haley; Levy, Michael A; Piemontese, Maria Rosaria; Castori, Marco; Accadia, Maria; Biamino, Elisa; Della Monica, Matteo; Di Giacomo, Marilena Carmela; Gervasini, Cristina; Maitz, Silvia; Melis, Daniela; Milani, Donatella; Piccione, Maria; Prontera, Paolo; Selicorni, Angelo; Sadikovic, Bekim; Merla, Giuseppe | |
| SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline | 1-gen-2024 | Wood, Katherine A; Tong, R Spencer; Motta, Marialetizia; Cordeddu, Viviana; Scimone, Eleanor R; Bush, Stephen J; Maxwell, Dale W; Giannoulatou, Eleni; Caputo, Viviana; Traversa, Alice; Mancini, Cecilia; Ferrero, Giovanni B; Benedicenti, Francesco; Grammatico, Paola; Melis, Daniela; Steindl, Katharina; Brunetti-Pierri, Nicola; Trevisson, Eva; Wilkie, Andrew Om; Lin, Angela E; Cormier-Daire, Valerie; Twigg, Stephen Rf; Tartaglia, Marco; Goriely, Anne | |
| Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet) | 1-gen-2024 | Rossini, Linda; Ricci, Silvia; Montin, Davide; Azzari, Chiara; Gambineri, Eleonora; Tellini, Marco; Conti, Francesca; Pession, Andrea; Saettini, Francesco; Naviglio, Samuele; Valencic, Erica; Magnolato, Andrea; Baselli, Lucia; Azzolini, Sara; Consolini, Rita; Leonardi, Lucia; D'Alba, Irene; Carraro, Elisa; Romano, Roberta; Melis, Daniela; Stagi, Stefano; Cirillo, Emilia; Giardino, Giuliana; Biffi, Alessandra; Pignata, Claudio; Putti, Maria Caterina; Marzollo, Antonio | |
| Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants | 1-gen-2023 | Priolo, Manuela; Zara, Erika; Radio, Francesca Clementina; Ciolfi, Andrea; Spadaro, Francesca; Bellacchio, Emanuele; Mancini, Cecilia; Pantaleoni, Francesca; Cordeddu, Viviana; Chiriatti, Luigi; Niceta, Marcello; Africa, Emilio; Mammì, Corrado; Melis, Daniela; Coppola, Simona; Tartaglia, Marco | |
| Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care | 1-gen-2024 | Rossi, Alessandro; Simeoli, Chiara; Pivonello, Rosario; Salerno, Mariacarolina; Rosano, Carmen; Brunetti, Barbara; Strisciuglio, Pietro; Colao, Annamaria; Parenti, Giancarlo; Melis, Daniela; Derks, Terry G J | |
| Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules | 1-gen-2024 | Mastromoro, Gioia; Santoro, Claudia; Motta, Marialetizia; Sorrentino, Ugo; Daniele, Paola; Peduto, Cristina; Petrizzelli, Francesco; Tripodi, Martina; Pinna, Valentina; Zanobio, Mariateresa; Rotundo, Giovannina; Bellacchio, Emanuele; Lepri, Francesca; Farina, Antonella; D'Asdia, Maria Cecilia; Piceci-Sparascio, Francesca; Biagini, Tommaso; Petracca, Antonio; Castori, Marco; Melis, Daniela; Accadia, Maria; Traficante, Giovanna; Tarani, Luigi; Fontana, Paolo; Sirchia, Fabio; Paparella, Roberto; Currò, Aurora; Benedicenti, Francesco; Scala, Iris; Dentici, Maria Lisa; Leoni, Chiara; Trevisan, Valentina; Cecconi, Antonella; Giustini, Sandra; Pizzuti, Antonio; Salviati, Leonardo; Novelli, Antonio; Zampino, Giuseppe; Zenker, Martin; Genuardi, Maurizio; Digilio, Maria Cristina; Papi, Laura; Perrotta, Silverio; Nigro, Vincenzo; Castellanos, Elisabeth; Mazza, Tommaso; Trevisson, Eva; Tartaglia, Marco; Piluso, Giulio; De Luca, Alessandro | |
| FOXI3 pathogenic variants cause one form of craniofacial microsomia | 1-gen-2023 | Mao, K.; Borel, C.; Ansar, M.; Jolly, A.; Makrythanasis, P.; Froehlich, C.; Iwaszkiewicz, J.; Wang, B.; Xu, X.; Li, Q.; Blanc, X.; Zhu, H.; Chen, Q.; Jin, F.; Ankamreddy, H.; Singh, S.; Zhang, H.; Wang, X.; Chen, P.; Ranza, E.; Paracha, S. A.; Shah, S. F.; Guida, V.; Piceci-Sparascio, F.; Melis, D.; Dallapiccola, B.; Digilio, M. C.; Novelli, A.; Magliozzi, M.; Fadda, M. T.; Streff, H.; Machol, K.; Lewis, R. A.; Zoete, V.; Squeo, G. M.; Prontera, P.; Mancano, G.; Gori, G.; Mariani, M.; Selicorni, A.; Psoni, S.; Fryssira, H.; Douzgou, S.; Marlin, S.; Biskup, S.; De Luca, A.; Merla, G.; Zhao, S.; Cox, T. C.; Groves, A. K.; Lupski, J. R.; Zhang, Q.; Zhang, Y. -B.; Antonarakis, S. E. | |
| Development of Definitory and Classificatory Thinking in Geometry through Storytelling and GBL Activities | 1-gen-2024 | Tortorelli, Leonardo; Tortoriello, Francesco Saverio | |
| Enormous Out-of-Plane Charge Rectification and Conductance through Two-Dimensional Monolayers | 1-gen-2025 | Cabanillas, Anthony; Shahi, Simran; Liu, Maomao; Jaiswal, Hemendra Nath; Wei, Sichen; Fu, Yu; Chakravarty, Anindita; Ahmed, Asma; Liu, Xiaochi; Sun, Jian; Yang, Cheng; Yoo, Won Jong; Knobloch, Theresia; Perebeinos, Vasili; Di Bartolomeo, Antonio; Grasser, Tibor; Yao, Fei; Li, Huamin | |
| Software engineering education: Results from a training intervention based on SonarCloud when developing web apps | 1-gen-2025 | Nocera, S.; Romano, S.; Francese, R.; Scanniello, G. | |
| Constructions and lower bounds for evolving 2-threshold secret sharing schemes | 1-gen-2025 | D'Arco, Paolo; Prisco, Roberto De; Santis, Alfredo De | |
| Reply to a Letter to the Editor on Comparative performance of fully-automated and semi-automated artificial intelligence methods for the detection of clinically significant prostate cancer on MRI: a systematic review | 1-gen-2024 | Sushentsev, N.; Barrett, T.; Rundo, L. | |
| Image biomarkers and explainable AI: handcrafted features versus deep learned features | 1-gen-2024 | Rundo, L.; Militello, C. | |
| IMPA-Net: Interpretable Multi-Part Attention Network for Trustworthy Brain Tumor Classification from MRI | 1-gen-2024 | Xie, Y.; Zaccagna, F.; Rundo, L.; Testa, C.; Zhu, R.; Tonon, C.; Lodi, R.; Manners, D. N. |
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