Strains of Aureobasidium pullulans from Extreme Environments: New Potential Biocontrol Agents?
2025-01-01 Lucci, Martina; Khomutovska, Nataliia; Firrao, Giuseppe; Di Francesco, Alessandra
Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?
2019-01-01 Bottega, R.; Napolitano, L. M. R.; Carbone, A.; Cappelli, E.; Corsolini, F.; Onesti, S.; Savoia, A.; Gasparini, P.; Faletra, F.
When salt is needed to grow: Answers
2021-01-01 Conversano, E.; Romano, S.; Taddio, A.; Faletra, F.; Zanon, D.; Barbi, E.; Pennesi, M.
Identification of a new mutation (L46P) in the human NOG gene in an Italian patient with Symphalangism syndrome
2012-01-01 Athanasakis, E.; Biarnes, X.; Bonati, M. T.; Gasparini, P.; Faletra, F.
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis
2022-01-01 Persico, I.; Feresin, A.; Faleschini, M.; Fontana, G.; Sirchia, F.; Faletra, F.; La Bianca, M.; Suergiu, S.; Morgutti, M.; Maschio, M.; D'Adamo, A. P.; Raraigh, K.; Savoia, A.; Bottega, R.
When fingers point to the diagnosis
2020-01-01 Trombetta, A.; Magnolato, A.; Bruno, I.; Rabach, I.; Murru, F. M.; Faletra, F.
Remo Bodei: filosofia, politica ed economia in una raccolta postuma di saggi su Hegel
2025-01-01 Furlani, Simone
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss
2022-01-01 Morgan, A.; Faletra, F.; Severi, G.; La Bianca, M.; Licchetta, L.; Gasparini, P.; Graziano, C.; Girotto, G.
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss
2021-01-01 Bassani, S.; Van Beelen, E.; Rossel, M.; Voisin, N.; Morgan, A.; Arribat, Y.; Chatron, N.; Chrast, J.; Cocca, M.; Delprat, B.; Faletra, F.; Giannuzzi, G.; Guex, N.; Machavoine, R.; Pradervand, S.; Smits, J. J.; Van De Kamp, J. M.; Ziegler, A.; Amati, F.; Marlin, S.; Kremer, H.; Locher, H.; Maurice, T.; Gasparini, P.; Girotto, G.; Reymond, A.
Goethe-Jahrbuch
2024-01-01 Merzari, Alberto; Reisinger, Carmen; Matuschek, Stefan; Höfer, Hannes; Gabriel, Gottfried; Kerkmann, Jan; Golz, Jochen; Strohschneider, Moritz; / Hiroshi Murakami, Aeka Ishihara; Fuchs, Anne; Ohde, Deniz; Lutz , Petra; Guanghua Mo , / Martin Peschken; Xuan Zhao, /; Christin Hansen, Lis; Steinfeld, Thomas; Ranocchi, Emiliano; Zgraggen, Evelyn; Schäfer, Dennis
Neural Style Transfer e animazione volumetrica: l’uso pionieristico dell’AI in Elemental
2025-01-01 Roccatello, Chiara
A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet
2020-01-01 Tornese, G.; Patti, G.; Pellegrin, M. C.; Costa, P.; Faletra, F.; Faleschini, E.; Barbi, E.
Phylloid pattern of hypomelanosis closely related to chromosomal abnormalities in the 13q detected by SNP array analysis
2013-01-01 Faletra, F.; Berti, I.; Tommasini, A.; Pecile, V.; Cleva, L.; Alberini, E.; Bruno, I.; Gasparini, P.
An unusual diagnosis for an usual test
2020-01-01 Trombetta, A.; Migliarino, V.; Faletra, F.; Barbi, E.; Barbi, E.; Tornese, G.
Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: Clinical and functional characterization of two novel ABCC8 mutations
2013-01-01 Faletra, F.; Snider, K.; Shyng, S. -L.; Bruno, I.; Athanasakis, E.; Gasparini, P.; Dionisi-Vici, C.; Ventura, A.; Zhou, Q.; Stanley, C. A.; Burlina, A.
Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature
2017-01-01 Travan, L.; Naviglio, S.; De Cunto, A.; Pellegrin, A.; Pecile, V.; Spinelli, A. M.; Cappellani, S.; Faletra, F.
Possibilities and limits of energy transition: An analysis in the light of post-normal science
2021-01-01 Lampis, A; Pavanelli, ; Jmm, ; Guerrero, ; Al Del, V; &, Bermann; C,
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme
2022-01-01 Bottega, R.; Marzollo, A.; Marinoni, M.; Athanasakis, E.; Persico, I.; Bianco, A. M.; Faleschini, M.; Valencic, E.; Simoncini, D.; Rossini, L.; Corsolini, F.; La Bianca, M.; Robustelli, G.; Gabelli, M.; Agosti, M.; Biffi, A.; Grotto, P.; Bozzi, V.; Noris, P.; Burlina, A. B.; D'Adamo, A. P.; Tommasini, A.; Faletra, F.; Pastore, A.; Savoia, A.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
2021-01-01 Radio, F. C.; Pang, K.; Ciolfi, A.; Levy, M. A.; Hernandez-Garcia, A.; Pedace, L.; Pantaleoni, F.; Liu, Z.; De Boer, E.; Jackson, A.; Bruselles, A.; Mcconkey, H.; Stellacci, E.; Lo Cicero, S.; Motta, M.; Carrozzo, R.; Dentici, M. L.; Mcwalter, K.; Desai, M.; Monaghan, K. G.; Telegrafi, A.; Philippe, C.; Vitobello, A.; Au, M.; Grand, K.; Sanchez-Lara, P. A.; Baez, J.; Lindstrom, K.; Kulch, P.; Sebastian, J.; Madan-Khetarpal, S.; Roadhouse, C.; Mackenzie, J. J.; Monteleone, B.; Saunders, C. J.; Jean Cuevas, J. K.; Cross, L.; Zhou, D.; Hartley, T.; Sawyer, S. L.; Monteiro, F. P.; Secches, T. V.; Kok, F.; Schultz-Rogers, L. E.; Macke, E. L.; Morava, E.; Klee, E. W.; Kemppainen, J.; Iascone, M.; Selicorni, A.; Tenconi, R.; Amor, D. J.; Pais, L.; Gallacher, L.; Turnpenny, P. D.; Stals, K.; Ellard, S.; Cabet, S.; Lesca, G.; Pascal, J.; Steindl, K.; Ravid, S.; Weiss, K.; Castle, A. M. R.; Carter, M. T.; Kalsner, L.; De Vries, B. B. A.; Van Bon, B. W.; Wevers, M. R.; Pfundt, R.; Stegmann, A. P. A.; Kerr, B.; Kingston, H. M.; Chandler, K. E.; Sheehan, W.; Elias, A. F.; Shinde, D. N.; Towne, M. C.; Robin, N. H.; Goodloe, D.; Vanderver, A.; Sherbini, O.; Bluske, K.; Hagelstrom, R. T.; Zanus, C.; Faletra, F.; Musante, L.; Kurtz-Nelson, E. C.; Earl, R. K.; Anderlid, B. -M.; Morin, G.; Van Slegtenhorst, M.; Diderich, K. E. M.; Brooks, A. S.; Gribnau, J.; Boers, R. G.; Finestra, T. R.; Carter, L. B.; Rauch, A.; Gasparini, P.; Boycott, K. M.; Barakat, T. S.; Graham, J. M.; Faivre, L.; Banka, S.; Wang, T.; Eichler, E. E.; Priolo, M.; Dallapiccola, B.; Vissers, L. E. L. M.; Sadikovic, B.; Scott, D. A.; Holder, J. L.; Tartaglia, M.
A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature
2011-01-01 Faletra, F.; Devescovi, R.; Pecile, V.; Fabretto, A.; Carrozzi, M.; Gasparini, P.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Strains of Aureobasidium pullulans from Extreme Environments: New Potential Biocontrol Agents? | 1-gen-2025 | Lucci, Martina; Khomutovska, Nataliia; Firrao, Giuseppe; Di Francesco, Alessandra | |
| Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible? | 1-gen-2019 | Bottega, R.; Napolitano, L. M. R.; Carbone, A.; Cappelli, E.; Corsolini, F.; Onesti, S.; Savoia, A.; Gasparini, P.; Faletra, F. | |
| When salt is needed to grow: Answers | 1-gen-2021 | Conversano, E.; Romano, S.; Taddio, A.; Faletra, F.; Zanon, D.; Barbi, E.; Pennesi, M. | |
| Identification of a new mutation (L46P) in the human NOG gene in an Italian patient with Symphalangism syndrome | 1-gen-2012 | Athanasakis, E.; Biarnes, X.; Bonati, M. T.; Gasparini, P.; Faletra, F. | |
| Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis | 1-gen-2022 | Persico, I.; Feresin, A.; Faleschini, M.; Fontana, G.; Sirchia, F.; Faletra, F.; La Bianca, M.; Suergiu, S.; Morgutti, M.; Maschio, M.; D'Adamo, A. P.; Raraigh, K.; Savoia, A.; Bottega, R. | |
| When fingers point to the diagnosis | 1-gen-2020 | Trombetta, A.; Magnolato, A.; Bruno, I.; Rabach, I.; Murru, F. M.; Faletra, F. | |
| Remo Bodei: filosofia, politica ed economia in una raccolta postuma di saggi su Hegel | 1-gen-2025 | Furlani, Simone | |
| There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss | 1-gen-2022 | Morgan, A.; Faletra, F.; Severi, G.; La Bianca, M.; Licchetta, L.; Gasparini, P.; Graziano, C.; Girotto, G. | |
| Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss | 1-gen-2021 | Bassani, S.; Van Beelen, E.; Rossel, M.; Voisin, N.; Morgan, A.; Arribat, Y.; Chatron, N.; Chrast, J.; Cocca, M.; Delprat, B.; Faletra, F.; Giannuzzi, G.; Guex, N.; Machavoine, R.; Pradervand, S.; Smits, J. J.; Van De Kamp, J. M.; Ziegler, A.; Amati, F.; Marlin, S.; Kremer, H.; Locher, H.; Maurice, T.; Gasparini, P.; Girotto, G.; Reymond, A. | |
| Goethe-Jahrbuch | 1-gen-2024 | Merzari, Alberto; Reisinger, Carmen; Matuschek, Stefan; Höfer, Hannes; Gabriel, Gottfried; Kerkmann, Jan; Golz, Jochen; Strohschneider, Moritz; / Hiroshi Murakami, Aeka Ishihara; Fuchs, Anne; Ohde, Deniz; Lutz , Petra; Guanghua Mo , / Martin Peschken; Xuan Zhao, /; Christin Hansen, Lis; Steinfeld, Thomas; Ranocchi, Emiliano; Zgraggen, Evelyn; Schäfer, Dennis | |
| Neural Style Transfer e animazione volumetrica: l’uso pionieristico dell’AI in Elemental | 1-gen-2025 | Roccatello, Chiara | |
| A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet | 1-gen-2020 | Tornese, G.; Patti, G.; Pellegrin, M. C.; Costa, P.; Faletra, F.; Faleschini, E.; Barbi, E. | |
| Phylloid pattern of hypomelanosis closely related to chromosomal abnormalities in the 13q detected by SNP array analysis | 1-gen-2013 | Faletra, F.; Berti, I.; Tommasini, A.; Pecile, V.; Cleva, L.; Alberini, E.; Bruno, I.; Gasparini, P. | |
| An unusual diagnosis for an usual test | 1-gen-2020 | Trombetta, A.; Migliarino, V.; Faletra, F.; Barbi, E.; Barbi, E.; Tornese, G. | |
| Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: Clinical and functional characterization of two novel ABCC8 mutations | 1-gen-2013 | Faletra, F.; Snider, K.; Shyng, S. -L.; Bruno, I.; Athanasakis, E.; Gasparini, P.; Dionisi-Vici, C.; Ventura, A.; Zhou, Q.; Stanley, C. A.; Burlina, A. | |
| Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature | 1-gen-2017 | Travan, L.; Naviglio, S.; De Cunto, A.; Pellegrin, A.; Pecile, V.; Spinelli, A. M.; Cappellani, S.; Faletra, F. | |
| Possibilities and limits of energy transition: An analysis in the light of post-normal science | 1-gen-2021 | Lampis, A; Pavanelli, ; Jmm, ; Guerrero, ; Al Del, V; &, Bermann; C, | |
| GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme | 1-gen-2022 | Bottega, R.; Marzollo, A.; Marinoni, M.; Athanasakis, E.; Persico, I.; Bianco, A. M.; Faleschini, M.; Valencic, E.; Simoncini, D.; Rossini, L.; Corsolini, F.; La Bianca, M.; Robustelli, G.; Gabelli, M.; Agosti, M.; Biffi, A.; Grotto, P.; Bozzi, V.; Noris, P.; Burlina, A. B.; D'Adamo, A. P.; Tommasini, A.; Faletra, F.; Pastore, A.; Savoia, A. | |
| SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females | 1-gen-2021 | Radio, F. C.; Pang, K.; Ciolfi, A.; Levy, M. A.; Hernandez-Garcia, A.; Pedace, L.; Pantaleoni, F.; Liu, Z.; De Boer, E.; Jackson, A.; Bruselles, A.; Mcconkey, H.; Stellacci, E.; Lo Cicero, S.; Motta, M.; Carrozzo, R.; Dentici, M. L.; Mcwalter, K.; Desai, M.; Monaghan, K. G.; Telegrafi, A.; Philippe, C.; Vitobello, A.; Au, M.; Grand, K.; Sanchez-Lara, P. A.; Baez, J.; Lindstrom, K.; Kulch, P.; Sebastian, J.; Madan-Khetarpal, S.; Roadhouse, C.; Mackenzie, J. J.; Monteleone, B.; Saunders, C. J.; Jean Cuevas, J. K.; Cross, L.; Zhou, D.; Hartley, T.; Sawyer, S. L.; Monteiro, F. P.; Secches, T. V.; Kok, F.; Schultz-Rogers, L. E.; Macke, E. L.; Morava, E.; Klee, E. W.; Kemppainen, J.; Iascone, M.; Selicorni, A.; Tenconi, R.; Amor, D. J.; Pais, L.; Gallacher, L.; Turnpenny, P. D.; Stals, K.; Ellard, S.; Cabet, S.; Lesca, G.; Pascal, J.; Steindl, K.; Ravid, S.; Weiss, K.; Castle, A. M. R.; Carter, M. T.; Kalsner, L.; De Vries, B. B. A.; Van Bon, B. W.; Wevers, M. R.; Pfundt, R.; Stegmann, A. P. A.; Kerr, B.; Kingston, H. M.; Chandler, K. E.; Sheehan, W.; Elias, A. F.; Shinde, D. N.; Towne, M. C.; Robin, N. H.; Goodloe, D.; Vanderver, A.; Sherbini, O.; Bluske, K.; Hagelstrom, R. T.; Zanus, C.; Faletra, F.; Musante, L.; Kurtz-Nelson, E. C.; Earl, R. K.; Anderlid, B. -M.; Morin, G.; Van Slegtenhorst, M.; Diderich, K. E. M.; Brooks, A. S.; Gribnau, J.; Boers, R. G.; Finestra, T. R.; Carter, L. B.; Rauch, A.; Gasparini, P.; Boycott, K. M.; Barakat, T. S.; Graham, J. M.; Faivre, L.; Banka, S.; Wang, T.; Eichler, E. E.; Priolo, M.; Dallapiccola, B.; Vissers, L. E. L. M.; Sadikovic, B.; Scott, D. A.; Holder, J. L.; Tartaglia, M. | |
| A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature | 1-gen-2011 | Faletra, F.; Devescovi, R.; Pecile, V.; Fabretto, A.; Carrozzi, M.; Gasparini, P. |
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