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, G.; Vitiello, F.; Casertano, A.; Fontana, P.; Genesio, R.; Bruzzese, D.; Ginocchio, V. M.; Mormile, A.; Nitsch, L.; Andria, G.; Melis, D.
CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype
2016 Menke, L. A.; van Belzen, M. J.; Alders, M.; Cristofoli, F.; Ehmke, N.; Fergelot, P.; Foster, A.; Gerkes, E. H.; Hoffer, M. J. V.; Horn, D.; Kant, S. G.; Lacombe, D.; Leon, E.; Maas, S. M.; Melis, D.; Muto, V.; Park, S.; Peeters, H.; Peters, D. J. M.; Pfundt, R.; van Ravenswaaij-Arts, C. M. A.; Tartaglia, M.; Hennekam, R. C. M.
Cutting edge: Increased autoimmunity risk in glycogen storage disease type 1b is associated with a reduced engagement of glycolysis in T Cells and an impaired regulatory T Cell function
2017 Melis, D.; Carbone, F.; Minopoli, G.; La Rocca, C.; Perna, F.; De Rosa, V.; Galgani, M.; Andria, G.; Parenti, G.; Matarese, G.
Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome
2017 Casertano, A.; Fontana, P.; Hennekam, R. C.; Tartaglia, M.; Genesio, R.; Dieber, T. B.; Ortega, L.; Nitsch, L.; Melis, D.
Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?
2017 Fontana, P; Melis, D; D'Amico, A; Cappuccio, G; Auletta, G; Vassallo, P; Genesio, R; Nitsch, L; Buffolano, W
Rossi A, Ruoppolo M, Formisano P, Villani G, Albano L, Gallo G, Crisci D, Moccia A, Parenti G, Strisciuglio P, Melis D. Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria? J Inherit Metab Dis. 2018 Nov;41(6):985-995. doi: 10.1007/s10545-018-0149-4. IF 4.827. Citazioni 8(Google Scholar), 7 (Scopus), 4 (ISI web of Science)
2018 Rossi, A; Ruoppolo, M; Formisano, P; Villani, G; Albano, L; Gallo, G; Crisci, D; Moccia, A; Parenti, G; Strisciuglio, P; Melis, D.
Medullary unidentified bright objects in Neurofibromatosis type 1: a case series
2018 Alessandrella, A.; Della Casa, R.; Alessio, M.; Puente Prieto, J.; Strisciuglio, P.; Melis, D.
A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment
2018 Alessandrella, A.; Della Casa, R.; Alessio, M.; Puente Prieto, J.; Strisciuglio, P.; Melis, D.
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1
2018 Santoro, C.; Giugliano, T.; Kraemer, M.; Torella, A.; Schwitalla, J. C.; Cirillo, M.; Melis, D.; Berlit, P.; Nigro, V.; Perrotta, S.; Piluso, G.
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
2019 Giugliano, Teresa; Santoro, Claudia; Torella, Annalaura; Del Vecchio Blanco, Francesca; Grandone, Anna; Elena Onore, Maria; Anna Beatrice Melone, Mariarosa; Straccia, Giulia; Melis, Daniela; Piccolo, Vincenzo; Limongelli, Giuseppe; Buono, Salvatore; Perrotta, Silverio; Nigro, Vincenzo; Piluso, Giulio
Parametric design of purely compressed shells
2021 Olivieri, C.; Angelillo, M.; Gesualdo, A.; Iannuzzo, A.; Fortunato, A.
Mobile Banking: An Innovative Solution for Increasing Financial Inclusion in Sub-Saharan African Countries: Evidence from Nigeria
2020 Siano, Alfonso; Raimi, Lukman; Palazzo, Maria; Clementina Panait, Mirela
A logical-mathematical approach for the implementation of ecologically equipped productive urban areas
2021 Sessa, M. R.; Esposito, B.; Sica, D.; Malandrino, O.
καὶ εἴ τι λόγον ἔχις πρὸς ἐμὲ παρεδρεύιν I PAPIRI YADIN E IL PROCESSO ROMANO NELLE PROVINCE ORIENTALI (II sec. d. C.)
2021 DI CINTIO, Lucia
LA NORMA COME RAPPRESENTAZIONE. IL DINAMISMO ISTITUZIONALE NELL’ETÀ CONTEMPORANEA
2021 Nigro, Carmelo
Advanced robotics and additive manufacturing of composites: towards a new era in Industry 4.0
2022 Parmar, HETALBEN BABULAL; Khan, Tayyab; Tucci, Fausto; Umer, Rehan; Carlone, Pierpaolo
Characterization of cold-spray coatings on fiber-reinforced polymers through nanoindentation tests
2021 Serena Perna, Alessia; Astarita, Antonello; Carlone, Pierpaolo; Guthmann, Xavier; Viscusi, Antonio
Effects of pulling speed on structural performance of L-shaped pultruded profiles
2021 Vedernikov, Alexander; Tucci, Fausto; Carlone, Pierpaolo; Gusev, Sergey; Konev, Stepan; Firsov, Denis; Akhatov, Iskander; Safonov, Alexander
Structural Elucidation and Mechanical Behavior of Cryogenically Treated Ultra-High Molecular Weight Poly-ethylene (UHMWPE)
2021 Chopra, Swamini; Deshmukh, Kavita A.; Somvanshi, Mitali V.; Patil, Neha V.; Rakhe, Sidhdant R.; Sontakke, Raju V.; Batthula, Saisha; Phani Konda, Alekhya; Waghmare, Gauri; Anjali, Arabelli; Peshwe, Dilip; Gogte, C. L.; Carlone, Pierpaolo
Language as a proxy for cultural change. A contrastive analysis for French and Italian lexicon on male homosexuality
2021 Agovino, Massimiliano; Bevilacqua, Michele; Cerciello, Massimiliano
| Titolo | 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-gen-2016 | Cappuccio, G.; Vitiello, F.; Casertano, A.; Fontana, P.; Genesio, R.; Bruzzese, D.; Ginocchio, V. M.; Mormile, A.; Nitsch, L.; Andria, G.; Melis, D. | |
| CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype | 1-gen-2016 | Menke, L. A.; van Belzen, M. J.; Alders, M.; Cristofoli, F.; Ehmke, N.; Fergelot, P.; Foster, A.; Gerkes, E. H.; Hoffer, M. J. V.; Horn, D.; Kant, S. G.; Lacombe, D.; Leon, E.; Maas, S. M.; Melis, D.; Muto, V.; Park, S.; Peeters, H.; Peters, D. J. M.; Pfundt, R.; van Ravenswaaij-Arts, C. M. A.; Tartaglia, M.; Hennekam, R. C. M. | |
| Cutting edge: Increased autoimmunity risk in glycogen storage disease type 1b is associated with a reduced engagement of glycolysis in T Cells and an impaired regulatory T Cell function | 1-gen-2017 | Melis, D.; Carbone, F.; Minopoli, G.; La Rocca, C.; Perna, F.; De Rosa, V.; Galgani, M.; Andria, G.; Parenti, G.; Matarese, G. | |
| Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome | 1-gen-2017 | Casertano, A.; Fontana, P.; Hennekam, R. C.; Tartaglia, M.; Genesio, R.; Dieber, T. B.; Ortega, L.; Nitsch, L.; Melis, D. | |
| Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies? | 1-gen-2017 | Fontana, P; Melis, D; D'Amico, A; Cappuccio, G; Auletta, G; Vassallo, P; Genesio, R; Nitsch, L; Buffolano, W | |
| Rossi A, Ruoppolo M, Formisano P, Villani G, Albano L, Gallo G, Crisci D, Moccia A, Parenti G, Strisciuglio P, Melis D. Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria? J Inherit Metab Dis. 2018 Nov;41(6):985-995. doi: 10.1007/s10545-018-0149-4. IF 4.827. Citazioni 8(Google Scholar), 7 (Scopus), 4 (ISI web of Science) | 1-gen-2018 | Rossi, A; Ruoppolo, M; Formisano, P; Villani, G; Albano, L; Gallo, G; Crisci, D; Moccia, A; Parenti, G; Strisciuglio, P; Melis, D. | |
| Medullary unidentified bright objects in Neurofibromatosis type 1: a case series | 1-gen-2018 | Alessandrella, A.; Della Casa, R.; Alessio, M.; Puente Prieto, J.; Strisciuglio, P.; Melis, D. | |
| A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment | 1-gen-2018 | Alessandrella, A.; Della Casa, R.; Alessio, M.; Puente Prieto, J.; Strisciuglio, P.; Melis, D. | |
| Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1 | 1-gen-2018 | Santoro, C.; Giugliano, T.; Kraemer, M.; Torella, A.; Schwitalla, J. C.; Cirillo, M.; Melis, D.; Berlit, P.; Nigro, V.; Perrotta, S.; Piluso, G. | |
| Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders. | 1-gen-2019 | Giugliano, Teresa; Santoro, Claudia; Torella, Annalaura; Del Vecchio Blanco, Francesca; Grandone, Anna; Elena Onore, Maria; Anna Beatrice Melone, Mariarosa; Straccia, Giulia; Melis, Daniela; Piccolo, Vincenzo; Limongelli, Giuseppe; Buono, Salvatore; Perrotta, Silverio; Nigro, Vincenzo; Piluso, Giulio | |
| Parametric design of purely compressed shells | 1-gen-2021 | Olivieri, C.; Angelillo, M.; Gesualdo, A.; Iannuzzo, A.; Fortunato, A. | |
| Mobile Banking: An Innovative Solution for Increasing Financial Inclusion in Sub-Saharan African Countries: Evidence from Nigeria | 1-gen-2020 | Siano, Alfonso; Raimi, Lukman; Palazzo, Maria; Clementina Panait, Mirela | |
| A logical-mathematical approach for the implementation of ecologically equipped productive urban areas | 1-gen-2021 | Sessa, M. R.; Esposito, B.; Sica, D.; Malandrino, O. | |
| καὶ εἴ τι λόγον ἔχις πρὸς ἐμὲ παρεδρεύιν I PAPIRI YADIN E IL PROCESSO ROMANO NELLE PROVINCE ORIENTALI (II sec. d. C.) | 1-gen-2021 | DI CINTIO, Lucia | |
| LA NORMA COME RAPPRESENTAZIONE. IL DINAMISMO ISTITUZIONALE NELL’ETÀ CONTEMPORANEA | 1-gen-2021 | Nigro, Carmelo | |
| Advanced robotics and additive manufacturing of composites: towards a new era in Industry 4.0 | 1-gen-2022 | Parmar, HETALBEN BABULAL; Khan, Tayyab; Tucci, Fausto; Umer, Rehan; Carlone, Pierpaolo | |
| Characterization of cold-spray coatings on fiber-reinforced polymers through nanoindentation tests | 1-gen-2021 | Serena Perna, Alessia; Astarita, Antonello; Carlone, Pierpaolo; Guthmann, Xavier; Viscusi, Antonio | |
| Effects of pulling speed on structural performance of L-shaped pultruded profiles | 1-gen-2021 | Vedernikov, Alexander; Tucci, Fausto; Carlone, Pierpaolo; Gusev, Sergey; Konev, Stepan; Firsov, Denis; Akhatov, Iskander; Safonov, Alexander | |
| Structural Elucidation and Mechanical Behavior of Cryogenically Treated Ultra-High Molecular Weight Poly-ethylene (UHMWPE) | 1-gen-2021 | Chopra, Swamini; Deshmukh, Kavita A.; Somvanshi, Mitali V.; Patil, Neha V.; Rakhe, Sidhdant R.; Sontakke, Raju V.; Batthula, Saisha; Phani Konda, Alekhya; Waghmare, Gauri; Anjali, Arabelli; Peshwe, Dilip; Gogte, C. L.; Carlone, Pierpaolo | |
| Language as a proxy for cultural change. A contrastive analysis for French and Italian lexicon on male homosexuality | 1-gen-2021 | Agovino, Massimiliano; Bevilacqua, Michele; Cerciello, Massimiliano |
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