Understanding the Energy System of the Paulista Macro-metropolis: First Steps in Local Action towards Climate Change
2020-01-01 Mendes De Almeida Collaço, F; Soares, R; Mott Pavanelli, Jm; Berejuk, G; Lampis, A; Bermann, C
A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation
2010-01-01 Fabretto, A.; Shardlow, A.; Faletra, F.; Lepore, L.; Hladnik, U.; Gasparini, P.
Genetic analysis of Italian patients with congenital tufting enteropathy
2016-01-01 D'Apolito, M.; Pisanelli, D.; Faletra, F.; Giardino, I.; Gigante, M.; Pettoello-Mantovani, M.; Goulet, O.; Gasparini, P.; Campanozzi, A.
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
2021-01-01 Pelletier, F.; Perrier, S.; Cayami, F. K.; Mirchi, A.; Saikali, S.; Tran, L. T.; Ulrick, N.; Guerrero, K.; Rampakakis, E.; Van Spaendonk, R. M. L.; Naidu, S.; Pohl, D.; Gibson, W. T.; Demos, M.; Goizet, C.; Tejera-Martin, I.; Potic, A.; Fogel, B. L.; Brais, B.; Sylvain, M.; Sebire, G.; Lourenco, C. M.; Bonkowsky, J. L.; Catsman-Berrevoets, C.; Pinto, P. S.; Tirupathi, S.; Stromme, P.; De Grauw, T.; Gieruszczak-Bialek, D.; Krageloh-Mann, I.; Mierzewska, H.; Philippi, H.; Rankin, J.; Atik, T.; Banwell, B.; Benko, W. S.; Blaschek, A.; Bley, A.; Boltshauser, E.; Bratkovic, D.; Brozova, K.; Cimas, I.; Clough, C.; Corenblum, B.; Dinopoulos, A.; Dolan, G.; Faletra, F.; Fernandez, R.; Fletcher, J.; Garcia Garcia, M. E.; Gasparini, P.; Gburek-Augustat, J.; Gonzalez Moron, D.; Hamati, A.; Harting, I.; Hertzberg, C.; Hill, A.; Hobson, G. M.; Innes, A. M.; Kauffman, M.; Kirwin, S. M.; Kluger, G.; Kolditz, P.; Kotzaeridou, U.; La Piana, R.; Liston, E.; Mcclintock, W.; Mcentagart, M.; Mckenzie, F.; Melancon, S.; Misbahuddin, A.; Suri, M.; Monton, F. I.; Moutton, S.; Murphy, R. P. J.; Nickel, M.; Onay, H.; Orcesi, S.; Ozklnay, F.; Patzer, S.; Pedro, H.; Pekic, S.; Pineda Marfa, M.; Pizzino, A.; Plecko, B.; Poll-The, B. T.; Popovic, V.; Rating, D.; Rioux, M. -F.; Rodriguez Espinosa, N.; Ronan, A.; Ostergaard, J. R.; Rossignol, E.; Sanchez-Carpintero, R.; Schossig, A.; Senbil, N.; Sonderberg Roos, L. K.; Stevens, C. A.; Synofzik, M.; Sztriha, L.; Tibussek, D.; Timmann, D.; Tonduti, D.; Van De Warrenburg, B. P.; Vazquez-Lopez, M.; Venkateswaran, S.; Wasling, P.; Wassmer, E.; Webster, R. I.; Wiegand, G.; Yoon, G.; Rotteveel, J.; Schiffmann, R.; Van Der Knaap, M. S.; Vanderver, A.; Martos-Moreno, G. A.; Polychronakos, C.; Wolf, N. I.; Bernard, G.
Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12
2012-01-01 Rocca, M. S.; Fabretto, A.; Faletra, F.; Carlet, O.; Skabar, A.; Gasparini, P.; Pecile, V.
Reparation ecology and climate risk in Latin-America: Experiences from four countries
2022-01-01 Lampis, A; Brink, E; CARRASCO-TORRONTEGUI, A; Hévea Dos, Santos; A, ; SOLORZANO-LEMUS, E; VÁSQUEZ-ARANGO, C
Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature
2023-01-01 Elefante, P.; Spedicati, B.; Faletra, F.; Pignata, L.; Cerrato, F.; Riccio, A.; Barbi, E.; Memo, L.; Travan, L.
Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes
2019-01-01 Piscianz, E.; Conversano, E.; Bianco, A. M.; Faletra, F.; Tommasini, A.; Valencic, E.
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series
2019-01-01 Gnoli, M.; Staals, E. L.; Campanacci, L.; Bedeschi, M. F.; Faletra, F.; Gallone, S.; Gaudio, A.; Mattina, T.; Gurrieri, F.; Percesepe, A.; Neri, I.; Virdi, A.; Tremosini, M.; Milanesi, A.; Brizola, E.; Pedrini, E.; Sangiorgi, L.
Public Policy and Governance Narratives of Distributed Energy Resources in Brazil
2022-01-01 Lampis, A; Bermann, C
Genomic studies in a large cohort of hearing impaired italian patients revealed several new alleles, a rare case of uniparental disomy (Upd) and the importance to search for copy number variations
2018-01-01 Morgan, A.; Lenarduzzi, S.; Cappellani, S.; Pecile, V.; Morgutti, M.; Orzan, E.; Ghiselli, S.; Ambrosetti, U.; Brumat, M.; Gajendrarao, P.; La Bianca, M.; Faletra, F.; Grosso, E.; Sirchia, F.; Sensi, A.; Graziano, C.; Seri, M.; Gasparini, P.; Girotto, G.
TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome
2012-01-01 Pigors, M.; Kiritsi, D.; Cobzaru, C.; Schwieger-Briel, A.; Suarez, J.; Faletra, F.; Aho, H.; Makela, L.; Kern, J. S.; Bruckner-Tuderman, L.; Has, C.
Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype study
2021-01-01 Uliana, V.; Sebastio, P.; Riva, M.; Carli, D.; Ruberto, C.; Bianchi, L.; Graziano, C.; Capelli, I.; Faletra, F.; Pillon, R.; Mattina, T.; Sensi, A.; Bonatti, F.; Percesepe, A.
Lights and shadows in the genetics of syndromic and non-syndromic hearing loss in the Italian population
2020-01-01 Morgan, A.; Lenarduzzi, S.; Spedicati, B.; Cattaruzzi, E.; Murru, F. M.; Pelliccione, G.; Mazza, D.; Zollino, M.; Graziano, C.; Ambrosetti, U.; Seri, M.; Faletra, F.; Girotto, G.
Advancing urban water security: The urbanization of water–society relations and entry–points for political engagement
2021-01-01 Empinotti, Vl; Budds, J; Jepson, W; Millington, N; Ferrara, Ln; Geer, Ja; Grandisoli, E; Gutierres Arteiro Da Paz, M; Puga, Bp; Macedo Alves, E; Cawood, S; Jacobi, Pr; Kinjo, Ve; Lampis, A; Moretti, R; Octavianti, T; Peirotto, N; Quinn, R; Quintslr, S; Sulamain, S; Vicente, Pa; Whaby, N
Detection of epidermal thickening in GJB2 carriers with epidermal US1
2009-01-01 Guastalla, P.; Guerci, V. I.; Fabretto, A.; Faletra, F.; Grasso, D. L.; Zocconi, E.; Stefanidou, D.; D'Adamo, P.; Ronfani, L.; Montico, M.; Morgutti, M.; Gasparini, P.
Resiliencia y ciudad neoliberal: una genealogía sobre América Latina
2023-01-01 Lampis, A
Energy transition or energy diversification? Critical thoughts from Argentina and Brazil
2022-01-01 Lampis, A; Ibanez Martin, M M; Zabaloy, M F; Schirmer Soares, R; Guzowski, C; Mandai, S S; Benites Lazaro, L L; Hermsdorf, S M; Bermann, C
Corrigendum to “Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency” [Immunol. Lett. 214 (2019) 52–54](S0165247819302342)(10.1016/j.imlet.2019.08.003)
2021-01-01 Valencic, E.; Piscianz, E.; Sirchia, F.; Tommasini, A.; Faletra, F.; Todaro, F.; Spinelli, A. M.; Badolato, R.
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype
2015-01-01 Lougaris, V.; Faletra, F.; Lanzi, G.; Vozzi, D.; Marcuzzi, A.; Valencic, E.; Piscianz, E.; Bianco, A.; Girardelli, M.; Baronio, M.; Loganes, C.; Fasth, A.; Salvini, F.; Trizzino, A.; Moratto, D.; Facchetti, F.; Giliani, S.; Plebani, A.; Tommasini, A.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Understanding the Energy System of the Paulista Macro-metropolis: First Steps in Local Action towards Climate Change | 1-gen-2020 | Mendes De Almeida Collaço, F; Soares, R; Mott Pavanelli, Jm; Berejuk, G; Lampis, A; Bermann, C | |
| A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation | 1-gen-2010 | Fabretto, A.; Shardlow, A.; Faletra, F.; Lepore, L.; Hladnik, U.; Gasparini, P. | |
| Genetic analysis of Italian patients with congenital tufting enteropathy | 1-gen-2016 | D'Apolito, M.; Pisanelli, D.; Faletra, F.; Giardino, I.; Gigante, M.; Pettoello-Mantovani, M.; Goulet, O.; Gasparini, P.; Campanozzi, A. | |
| Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C | 1-gen-2021 | Pelletier, F.; Perrier, S.; Cayami, F. K.; Mirchi, A.; Saikali, S.; Tran, L. T.; Ulrick, N.; Guerrero, K.; Rampakakis, E.; Van Spaendonk, R. M. L.; Naidu, S.; Pohl, D.; Gibson, W. T.; Demos, M.; Goizet, C.; Tejera-Martin, I.; Potic, A.; Fogel, B. L.; Brais, B.; Sylvain, M.; Sebire, G.; Lourenco, C. M.; Bonkowsky, J. L.; Catsman-Berrevoets, C.; Pinto, P. S.; Tirupathi, S.; Stromme, P.; De Grauw, T.; Gieruszczak-Bialek, D.; Krageloh-Mann, I.; Mierzewska, H.; Philippi, H.; Rankin, J.; Atik, T.; Banwell, B.; Benko, W. S.; Blaschek, A.; Bley, A.; Boltshauser, E.; Bratkovic, D.; Brozova, K.; Cimas, I.; Clough, C.; Corenblum, B.; Dinopoulos, A.; Dolan, G.; Faletra, F.; Fernandez, R.; Fletcher, J.; Garcia Garcia, M. E.; Gasparini, P.; Gburek-Augustat, J.; Gonzalez Moron, D.; Hamati, A.; Harting, I.; Hertzberg, C.; Hill, A.; Hobson, G. M.; Innes, A. M.; Kauffman, M.; Kirwin, S. M.; Kluger, G.; Kolditz, P.; Kotzaeridou, U.; La Piana, R.; Liston, E.; Mcclintock, W.; Mcentagart, M.; Mckenzie, F.; Melancon, S.; Misbahuddin, A.; Suri, M.; Monton, F. I.; Moutton, S.; Murphy, R. P. J.; Nickel, M.; Onay, H.; Orcesi, S.; Ozklnay, F.; Patzer, S.; Pedro, H.; Pekic, S.; Pineda Marfa, M.; Pizzino, A.; Plecko, B.; Poll-The, B. T.; Popovic, V.; Rating, D.; Rioux, M. -F.; Rodriguez Espinosa, N.; Ronan, A.; Ostergaard, J. R.; Rossignol, E.; Sanchez-Carpintero, R.; Schossig, A.; Senbil, N.; Sonderberg Roos, L. K.; Stevens, C. A.; Synofzik, M.; Sztriha, L.; Tibussek, D.; Timmann, D.; Tonduti, D.; Van De Warrenburg, B. P.; Vazquez-Lopez, M.; Venkateswaran, S.; Wasling, P.; Wassmer, E.; Webster, R. I.; Wiegand, G.; Yoon, G.; Rotteveel, J.; Schiffmann, R.; Van Der Knaap, M. S.; Vanderver, A.; Martos-Moreno, G. A.; Polychronakos, C.; Wolf, N. I.; Bernard, G. | |
| Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12 | 1-gen-2012 | Rocca, M. S.; Fabretto, A.; Faletra, F.; Carlet, O.; Skabar, A.; Gasparini, P.; Pecile, V. | |
| Reparation ecology and climate risk in Latin-America: Experiences from four countries | 1-gen-2022 | Lampis, A; Brink, E; CARRASCO-TORRONTEGUI, A; Hévea Dos, Santos; A, ; SOLORZANO-LEMUS, E; VÁSQUEZ-ARANGO, C | |
| Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature | 1-gen-2023 | Elefante, P.; Spedicati, B.; Faletra, F.; Pignata, L.; Cerrato, F.; Riccio, A.; Barbi, E.; Memo, L.; Travan, L. | |
| Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes | 1-gen-2019 | Piscianz, E.; Conversano, E.; Bianco, A. M.; Faletra, F.; Tommasini, A.; Valencic, E. | |
| Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series | 1-gen-2019 | Gnoli, M.; Staals, E. L.; Campanacci, L.; Bedeschi, M. F.; Faletra, F.; Gallone, S.; Gaudio, A.; Mattina, T.; Gurrieri, F.; Percesepe, A.; Neri, I.; Virdi, A.; Tremosini, M.; Milanesi, A.; Brizola, E.; Pedrini, E.; Sangiorgi, L. | |
| Public Policy and Governance Narratives of Distributed Energy Resources in Brazil | 1-gen-2022 | Lampis, A; Bermann, C | |
| Genomic studies in a large cohort of hearing impaired italian patients revealed several new alleles, a rare case of uniparental disomy (Upd) and the importance to search for copy number variations | 1-gen-2018 | Morgan, A.; Lenarduzzi, S.; Cappellani, S.; Pecile, V.; Morgutti, M.; Orzan, E.; Ghiselli, S.; Ambrosetti, U.; Brumat, M.; Gajendrarao, P.; La Bianca, M.; Faletra, F.; Grosso, E.; Sirchia, F.; Sensi, A.; Graziano, C.; Seri, M.; Gasparini, P.; Girotto, G. | |
| TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome | 1-gen-2012 | Pigors, M.; Kiritsi, D.; Cobzaru, C.; Schwieger-Briel, A.; Suarez, J.; Faletra, F.; Aho, H.; Makela, L.; Kern, J. S.; Bruckner-Tuderman, L.; Has, C. | |
| Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype study | 1-gen-2021 | Uliana, V.; Sebastio, P.; Riva, M.; Carli, D.; Ruberto, C.; Bianchi, L.; Graziano, C.; Capelli, I.; Faletra, F.; Pillon, R.; Mattina, T.; Sensi, A.; Bonatti, F.; Percesepe, A. | |
| Lights and shadows in the genetics of syndromic and non-syndromic hearing loss in the Italian population | 1-gen-2020 | Morgan, A.; Lenarduzzi, S.; Spedicati, B.; Cattaruzzi, E.; Murru, F. M.; Pelliccione, G.; Mazza, D.; Zollino, M.; Graziano, C.; Ambrosetti, U.; Seri, M.; Faletra, F.; Girotto, G. | |
| Advancing urban water security: The urbanization of water–society relations and entry–points for political engagement | 1-gen-2021 | Empinotti, Vl; Budds, J; Jepson, W; Millington, N; Ferrara, Ln; Geer, Ja; Grandisoli, E; Gutierres Arteiro Da Paz, M; Puga, Bp; Macedo Alves, E; Cawood, S; Jacobi, Pr; Kinjo, Ve; Lampis, A; Moretti, R; Octavianti, T; Peirotto, N; Quinn, R; Quintslr, S; Sulamain, S; Vicente, Pa; Whaby, N | |
| Detection of epidermal thickening in GJB2 carriers with epidermal US1 | 1-gen-2009 | Guastalla, P.; Guerci, V. I.; Fabretto, A.; Faletra, F.; Grasso, D. L.; Zocconi, E.; Stefanidou, D.; D'Adamo, P.; Ronfani, L.; Montico, M.; Morgutti, M.; Gasparini, P. | |
| Resiliencia y ciudad neoliberal: una genealogía sobre América Latina | 1-gen-2023 | Lampis, A | |
| Energy transition or energy diversification? Critical thoughts from Argentina and Brazil | 1-gen-2022 | Lampis, A; Ibanez Martin, M M; Zabaloy, M F; Schirmer Soares, R; Guzowski, C; Mandai, S S; Benites Lazaro, L L; Hermsdorf, S M; Bermann, C | |
| Corrigendum to “Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency” [Immunol. Lett. 214 (2019) 52–54](S0165247819302342)(10.1016/j.imlet.2019.08.003) | 1-gen-2021 | Valencic, E.; Piscianz, E.; Sirchia, F.; Tommasini, A.; Faletra, F.; Todaro, F.; Spinelli, A. M.; Badolato, R. | |
| Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype | 1-gen-2015 | Lougaris, V.; Faletra, F.; Lanzi, G.; Vozzi, D.; Marcuzzi, A.; Valencic, E.; Piscianz, E.; Bianco, A.; Girardelli, M.; Baronio, M.; Loganes, C.; Fasth, A.; Salvini, F.; Trizzino, A.; Moratto, D.; Facchetti, F.; Giliani, S.; Plebani, A.; Tommasini, A. |
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