A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss
2014-01-01 Faletra, F.; Girotto, G.; D'Adamo, A. P.; Vozzi, D.; Morgan, A.; Gasparini, P.
Evidence of inbreeding depression on human height
2012-01-01 Mcquillan, R.; Eklund, N.; Pirastu, N.; Kuningas, M.; Mcevoy, B. P.; Esko, T.; Corre, T.; Davies, G.; Kaakinen, M.; Lyytikainen, L. -P.; Kristiansson, K.; Havulinna, A. S.; Gogele, M.; Vitart, V.; Tenesa, A.; Aulchenko, Y.; Hayward, C.; Johansson, A.; Boban, M.; Ulivi, S.; Robino, A.; Boraska, V.; Igl, W.; Wild, S. H.; Zgaga, L.; Amin, N.; Theodoratou, E.; Polasek, O.; Girotto, G.; Lopez, L. M.; Sala, C.; Lahti, J.; Laatikainen, T.; Prokopenko, I.; Kals, M.; Viikari, J.; Yang, J.; Pouta, A.; Estrada, K.; Hofman, A.; Freimer, N.; Martin, N. G.; Kahonen, M.; Milani, L.; Heliovaara, M.; Vartiainen, E.; Raikkonen, K.; Masciullo, C.; Starr, J. M.; Hicks, A. A.; Esposito, L.; Kolcic, I.; Farrington, S. M.; Oostra, B.; Zemunik, T.; Campbell, H.; Kirin, M.; Pehlic, M.; Faletra, F.; Porteous, D.; Pistis, G.; Widen, E.; Salomaa, V.; Koskinen, S.; Fischer, K.; Lehtimaki, T.; Heath, A.; Mccarthy, M. I.; Rivadeneira, F.; Montgomery, G. W.; Tiemeier, H.; Hartikainen, A. -L.; Madden, P. A. F.; D'Adamo, P.; Hastie, N. D.; Gyllensten, U.; Wright, A. F.; Van Duijn, C. M.; Dunlop, M.; Rudan, I.; Gasparini, P.; Pramstaller, P. P.; Deary, I. J.; Toniolo, D.; Eriksson, J. G.; Jula, A.; Raitakari, O. T.; Metspalu, A.; Perola, M.; Jarvelin, M. -R.; Uitterlinden, A.; Visscher, P. M.; Wilson, J. F.
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge
2022-01-01 Musante, L.; Costa, P.; Zanus, C.; Faletra, F.; Murru, F. M.; Bianco, A. M.; La Bianca, M.; Ragusa, G.; Athanasakis, E.; D'Adamo, A. P.; Carrozzi, M.; Gasparini, P.
Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency
2019-01-01 Valencic, E.; Piscianz, E.; Sirchia, F.; Tommasini, A.; Faletra, F.; Todaro, F.; Spinelli, A. M.; Badolato, R.
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition
2022-01-01 Musante, L.; Faletra, F.; Meier, K.; Tomoum, H.; Najarzadeh Torbati, P.; Blair, E.; North, S.; Gartner, J.; Diegmann, S.; Beiraghi Toosi, M.; Ashrafzadeh, F.; Ghayoor Karimiani, E.; Murphy, D.; Murru, F. M.; Zanus, C.; Magnolato, A.; La Bianca, M.; Feresin, A.; Girotto, G.; Gasparini, P.; Costa, P.; Carrozzi, M.
Two-gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results
2015-01-01 Bianco, A. M.; Faletra, F.; Vozzi, D.; Girardelli, M.; Knowles, A.; Tommasini, A.; Zauli, G.; Marcuzzi, A.
Type i interferon-mediated autoinflammation due to DNase II deficiency
2017-01-01 Rodero, M. P.; Tesser, A.; Bartok, E.; Rice, G. I.; Della Mina, E.; Depp, M.; Beitz, B.; Bondet, V.; Cagnard, N.; Duffy, D.; Dussiot, M.; Fremond, M. -L.; Gattorno, M.; Guillem, F.; Kitabayashi, N.; Porcheray, F.; Rieux-Laucat, F.; Seabra, L.; Uggenti, C.; Volpi, S.; Zeef, L. A. H.; Alyanakian, M. -A.; Beltrand, J.; Bianco, A. M.; Boddaert, N.; Brouzes, C.; Candon, S.; Caorsi, R.; Charbit, M.; Fabre, M.; Faletra, F.; Girard, M.; Harroche, A.; Hartmann, E.; Lasne, D.; Marcuzzi, A.; Neven, B.; Nitschke, P.; Pascreau, T.; Pastore, S.; Picard, C.; Picco, P.; Piscianz, E.; Polak, M.; Quartier, P.; Rabant, M.; Stocco, G.; Taddio, A.; Uettwiller, F.; Valencic, E.; Vozzi, D.; Hartmann, G.; Barchet, W.; Hermine, O.; Bader-Meunier, B.; Tommasini, A.; Crow, Y. J.
Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL
2011-01-01 Faletra, F.; Athanasakis, E.; Minen, F.; Fornasier, F.; Marchetti, F.; Gasparini, P.
What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study
2022-01-01 Bianco, A. M.; Ragusa, G.; Di Carlo, V.; Faletra, F.; Di Stazio, M.; Racano, C.; Trisolino, G.; Cappellani, S.; De Pellegrin, M.; D'Addetta, I.; Carluccio, G.; Monforte, S.; Andreacchio, A.; Dibello, D.; D'Adamo, A. P.
Understanding Surface Properties in CeO2Catalysts for the Synthesis of Dimethyl Carbonate: A Combined In Situ IR and NEXAFS Study
2025-01-01 Galliano, G.; Bracciotti, E.; Jouve, A.; Braglia, L.; Calligaro, R.; Borfecchia, E.; Rojas-Buzo, S.; Bordiga, S.
Radical factorization in higher dimension
2025-01-01 Spirito, D.
Robotic single-port (da Vinci SP) versus multiport (da Vinci Xi) for the treatment of atypical endometrial hyperplasia and endometrial cancer: A multi-institutional comparison of surgical outcomes
2025-01-01 Cucinella, G.; Restaino, S.; Bruno, V.; Schivardi, G.; Capomacchia, F. M.; Capobianco, G.; Di Donna, M. C.; Arcieri, M.; Turco, L. C.; Petrillo, M.; Zanagnolo, V.; Vizzielli, G.; Chiantera, V.; Vizza, E.
High JAK2V617F allele burden in low-risk PV: an additional recommendation to start “early” cytoreduction? Results from a multicentric study
2025-01-01 Tosoni, L.; Di Giusto, S.; Morelli, G.; Bergnach, M.; Callegari, C.; Stella, R.; Zaja, F.; Schwab, A.; Wolfler, A.; Toffoletti, E.; Damiani, D.; Fanin, R.; Tiribelli, M.
Rethinking road mitigation priorities through detection-informed interpretation of roadkill data and road crossability
2026-01-01 Fonda, F.; D'Amico, M.; Petruzzellis, F.; Scridel, D.; Pesaro, S.; Tome, P.; Bacaro, G.
Mineral oil contamination along the cocoa supply chain: impact of storage and transportation in jute bags and assessment of contamination transfer into cocoa powder and cocoa butter
2025-01-01 Moret, S.; Conchione, C.; Vanini, R.; Barp, L.
Circulating tumor DNA in the diagnosis of ovarian cancer: a systematic review
2025-01-01 Taliento, C.; Greco, P.; Bruni, G.; Dueholm Hjorth, I. M.; Coosemans, A.; Froyman, W.; Timmerman, D.; Rotondo, J. C.; Mazziotta, C.; Arcieri, M.; Restaino, S.; Multinu, F.; Vizzielli, G.; Giorgi, C.; Dyrskjot, L.; Pinton, P.; Morciano, G.
An assessment of the relation between narrative productivity, subjectivity expression, emotion description, and ToM abilities in healthy aging
2025-01-01 Gallo, E.; Bosco, F. M.; Marini, A.
Evaluating the Effects of Managed Free-Roaming Cat Populations on Prey Through Stable Isotope Analysis: A Pilot Study from British Columbia, Canada
2025-01-01 Martinoia, V.; Ferguson, R.; Wolf, P. J.; Caric, M.; Novak, M.; Roche, S.
Widely targeted metabolomics and physiological analyses reveal the impact of ‘Zhongmikangzhen No. 2’ rootstock on Actinidia deliciosa
2025-01-01 Zhang, P.; Lin, M.; De Mori, G.; Li, C.; Cipriani, G.; Li, S.; Zhang, Q.; Zhang, Z.; Li, Y.; Sun, L.; Fang, J.; Qi, X.
Pooled frequency meta-analysis of family-accommodation (FA) in obsessive-compulsive disorder (OCD): A pervasive phenomenon
2025-01-01 Pellegrini, L.; Tardivo, G.; Callegher, R. Z.; Strani, F.; Fineberg, N. A.; Albert, U.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss | 1-gen-2014 | Faletra, F.; Girotto, G.; D'Adamo, A. P.; Vozzi, D.; Morgan, A.; Gasparini, P. | |
| Evidence of inbreeding depression on human height | 1-gen-2012 | Mcquillan, R.; Eklund, N.; Pirastu, N.; Kuningas, M.; Mcevoy, B. P.; Esko, T.; Corre, T.; Davies, G.; Kaakinen, M.; Lyytikainen, L. -P.; Kristiansson, K.; Havulinna, A. S.; Gogele, M.; Vitart, V.; Tenesa, A.; Aulchenko, Y.; Hayward, C.; Johansson, A.; Boban, M.; Ulivi, S.; Robino, A.; Boraska, V.; Igl, W.; Wild, S. H.; Zgaga, L.; Amin, N.; Theodoratou, E.; Polasek, O.; Girotto, G.; Lopez, L. M.; Sala, C.; Lahti, J.; Laatikainen, T.; Prokopenko, I.; Kals, M.; Viikari, J.; Yang, J.; Pouta, A.; Estrada, K.; Hofman, A.; Freimer, N.; Martin, N. G.; Kahonen, M.; Milani, L.; Heliovaara, M.; Vartiainen, E.; Raikkonen, K.; Masciullo, C.; Starr, J. M.; Hicks, A. A.; Esposito, L.; Kolcic, I.; Farrington, S. M.; Oostra, B.; Zemunik, T.; Campbell, H.; Kirin, M.; Pehlic, M.; Faletra, F.; Porteous, D.; Pistis, G.; Widen, E.; Salomaa, V.; Koskinen, S.; Fischer, K.; Lehtimaki, T.; Heath, A.; Mccarthy, M. I.; Rivadeneira, F.; Montgomery, G. W.; Tiemeier, H.; Hartikainen, A. -L.; Madden, P. A. F.; D'Adamo, P.; Hastie, N. D.; Gyllensten, U.; Wright, A. F.; Van Duijn, C. M.; Dunlop, M.; Rudan, I.; Gasparini, P.; Pramstaller, P. P.; Deary, I. J.; Toniolo, D.; Eriksson, J. G.; Jula, A.; Raitakari, O. T.; Metspalu, A.; Perola, M.; Jarvelin, M. -R.; Uitterlinden, A.; Visscher, P. M.; Wilson, J. F. | |
| The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge | 1-gen-2022 | Musante, L.; Costa, P.; Zanus, C.; Faletra, F.; Murru, F. M.; Bianco, A. M.; La Bianca, M.; Ragusa, G.; Athanasakis, E.; D'Adamo, A. P.; Carrozzi, M.; Gasparini, P. | |
| Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency | 1-gen-2019 | Valencic, E.; Piscianz, E.; Sirchia, F.; Tommasini, A.; Faletra, F.; Todaro, F.; Spinelli, A. M.; Badolato, R. | |
| TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition | 1-gen-2022 | Musante, L.; Faletra, F.; Meier, K.; Tomoum, H.; Najarzadeh Torbati, P.; Blair, E.; North, S.; Gartner, J.; Diegmann, S.; Beiraghi Toosi, M.; Ashrafzadeh, F.; Ghayoor Karimiani, E.; Murphy, D.; Murru, F. M.; Zanus, C.; Magnolato, A.; La Bianca, M.; Feresin, A.; Girotto, G.; Gasparini, P.; Costa, P.; Carrozzi, M. | |
| Two-gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results | 1-gen-2015 | Bianco, A. M.; Faletra, F.; Vozzi, D.; Girardelli, M.; Knowles, A.; Tommasini, A.; Zauli, G.; Marcuzzi, A. | |
| Type i interferon-mediated autoinflammation due to DNase II deficiency | 1-gen-2017 | Rodero, M. P.; Tesser, A.; Bartok, E.; Rice, G. I.; Della Mina, E.; Depp, M.; Beitz, B.; Bondet, V.; Cagnard, N.; Duffy, D.; Dussiot, M.; Fremond, M. -L.; Gattorno, M.; Guillem, F.; Kitabayashi, N.; Porcheray, F.; Rieux-Laucat, F.; Seabra, L.; Uggenti, C.; Volpi, S.; Zeef, L. A. H.; Alyanakian, M. -A.; Beltrand, J.; Bianco, A. M.; Boddaert, N.; Brouzes, C.; Candon, S.; Caorsi, R.; Charbit, M.; Fabre, M.; Faletra, F.; Girard, M.; Harroche, A.; Hartmann, E.; Lasne, D.; Marcuzzi, A.; Neven, B.; Nitschke, P.; Pascreau, T.; Pastore, S.; Picard, C.; Picco, P.; Piscianz, E.; Polak, M.; Quartier, P.; Rabant, M.; Stocco, G.; Taddio, A.; Uettwiller, F.; Valencic, E.; Vozzi, D.; Hartmann, G.; Barchet, W.; Hermine, O.; Bader-Meunier, B.; Tommasini, A.; Crow, Y. J. | |
| Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL | 1-gen-2011 | Faletra, F.; Athanasakis, E.; Minen, F.; Fornasier, F.; Marchetti, F.; Gasparini, P. | |
| What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study | 1-gen-2022 | Bianco, A. M.; Ragusa, G.; Di Carlo, V.; Faletra, F.; Di Stazio, M.; Racano, C.; Trisolino, G.; Cappellani, S.; De Pellegrin, M.; D'Addetta, I.; Carluccio, G.; Monforte, S.; Andreacchio, A.; Dibello, D.; D'Adamo, A. P. | |
| Understanding Surface Properties in CeO2Catalysts for the Synthesis of Dimethyl Carbonate: A Combined In Situ IR and NEXAFS Study | 1-gen-2025 | Galliano, G.; Bracciotti, E.; Jouve, A.; Braglia, L.; Calligaro, R.; Borfecchia, E.; Rojas-Buzo, S.; Bordiga, S. | |
| Radical factorization in higher dimension | 1-gen-2025 | Spirito, D. | |
| Robotic single-port (da Vinci SP) versus multiport (da Vinci Xi) for the treatment of atypical endometrial hyperplasia and endometrial cancer: A multi-institutional comparison of surgical outcomes | 1-gen-2025 | Cucinella, G.; Restaino, S.; Bruno, V.; Schivardi, G.; Capomacchia, F. M.; Capobianco, G.; Di Donna, M. C.; Arcieri, M.; Turco, L. C.; Petrillo, M.; Zanagnolo, V.; Vizzielli, G.; Chiantera, V.; Vizza, E. | |
| High JAK2V617F allele burden in low-risk PV: an additional recommendation to start “early” cytoreduction? Results from a multicentric study | 1-gen-2025 | Tosoni, L.; Di Giusto, S.; Morelli, G.; Bergnach, M.; Callegari, C.; Stella, R.; Zaja, F.; Schwab, A.; Wolfler, A.; Toffoletti, E.; Damiani, D.; Fanin, R.; Tiribelli, M. | |
| Rethinking road mitigation priorities through detection-informed interpretation of roadkill data and road crossability | 1-gen-2026 | Fonda, F.; D'Amico, M.; Petruzzellis, F.; Scridel, D.; Pesaro, S.; Tome, P.; Bacaro, G. | |
| Mineral oil contamination along the cocoa supply chain: impact of storage and transportation in jute bags and assessment of contamination transfer into cocoa powder and cocoa butter | 1-gen-2025 | Moret, S.; Conchione, C.; Vanini, R.; Barp, L. | |
| Circulating tumor DNA in the diagnosis of ovarian cancer: a systematic review | 1-gen-2025 | Taliento, C.; Greco, P.; Bruni, G.; Dueholm Hjorth, I. M.; Coosemans, A.; Froyman, W.; Timmerman, D.; Rotondo, J. C.; Mazziotta, C.; Arcieri, M.; Restaino, S.; Multinu, F.; Vizzielli, G.; Giorgi, C.; Dyrskjot, L.; Pinton, P.; Morciano, G. | |
| An assessment of the relation between narrative productivity, subjectivity expression, emotion description, and ToM abilities in healthy aging | 1-gen-2025 | Gallo, E.; Bosco, F. M.; Marini, A. | |
| Evaluating the Effects of Managed Free-Roaming Cat Populations on Prey Through Stable Isotope Analysis: A Pilot Study from British Columbia, Canada | 1-gen-2025 | Martinoia, V.; Ferguson, R.; Wolf, P. J.; Caric, M.; Novak, M.; Roche, S. | |
| Widely targeted metabolomics and physiological analyses reveal the impact of ‘Zhongmikangzhen No. 2’ rootstock on Actinidia deliciosa | 1-gen-2025 | Zhang, P.; Lin, M.; De Mori, G.; Li, C.; Cipriani, G.; Li, S.; Zhang, Q.; Zhang, Z.; Li, Y.; Sun, L.; Fang, J.; Qi, X. | |
| Pooled frequency meta-analysis of family-accommodation (FA) in obsessive-compulsive disorder (OCD): A pervasive phenomenon | 1-gen-2025 | Pellegrini, L.; Tardivo, G.; Callegher, R. Z.; Strani, F.; Fineberg, N. A.; Albert, U. |
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