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TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update
2013 Lattante, Serena; Rouleau, Ga; Kabashi, E.
The 312N variant of the luteinizing hormone/choriogonadotropin receptor gene (LHCGR) confers up to 2·7-fold increased risk of polycystic ovary syndrome in a Sardinian population
2012 Capalbo, Antonio; Sagnella, Francesca; Apa, Rosanna; Fulghesu, Am; Lanzone, Antonio; Morciano, Andrea; Farcomeni, A; Gangale, Mf; Moro, Francesca; Martinez, Daniela; Ciardulli, A; Palla, C; Uras, Ml; Spettu, F; Cappai, A; Carcassi, C; Neri, Giovanni; Tiziano, Francesco Danilo
The human OCTN1 (SLC22A4) reconstituted in liposomes catalyzes acetylcholine transport which is defective in the mutant L503F associated to the Crohn's disease
2012 Pochini, L; Scalise, M; Galluccio, M; Pani, Giovambattista; Siminovitch, Ka; Indiveri, C.
The Simpson-Golabi-Behmel syndrome: a clinical case and a detective story
2011 Gurrieri, Fiorella; Pomponi, Maria Grazia; Pietrobono, Roberta; Lucci Cordisco, Emanuela; Silvestri, Evelina; Storniello, G; Neri, Giovanni
Towards a European consensus for reporting incidental findings during clinical NGS testing
2015 Hehir Kwa, Jy; Claustres, M; Hastings, Rj; Van Ravenswaaij Arts, C; Christenhusz, G; Genuardi, Maurizio; Melegh, B; Cambon Thomsen, A; Patsalis, P; Vermeesch, J; Cornel, Mc; Serle, B; Palotie, A; Capoluongo, Ettore Domenico; Peterlin, B; Estivill, X; Robinson, Pn
TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia
2013 Lattante, Serena; Le Ber, I; Camuzat, A; Dayan, S; Godard, C; Van Bortel, I; De Septenville, A; Ciura, S; Brice, A; Kabashi, E.
Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes
2014 Qiao, Y; Mondal, K; Trapani, Valentina; Wen, J; Carpenter, G; Wildin, R; Price, Em; Gibbons, Rj; Eichmeyer, J; Jiang, R; Dupont, B; Martell, S; Lewis, Sm; Robinson, Wp; O'Driscoll, M; Wolf Minotti, Federica; Zwick, Me; Rajcan Separovic, E.
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2013 | TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update | Lattante, Serena; Rouleau, Ga; Kabashi, E. | |
| 1-gen-2012 | The 312N variant of the luteinizing hormone/choriogonadotropin receptor gene (LHCGR) confers up to 2·7-fold increased risk of polycystic ovary syndrome in a Sardinian population | Capalbo, Antonio; Sagnella, Francesca; Apa, Rosanna; Fulghesu, Am; Lanzone, Antonio; Morciano, Andrea; Farcomeni, A; Gangale, Mf; Moro, Francesca; Martinez, Daniela; Ciardulli, A; Palla, C; Uras, Ml; Spettu, F; Cappai, A; Carcassi, C; Neri, Giovanni; Tiziano, Francesco Danilo | |
| 1-gen-2012 | The human OCTN1 (SLC22A4) reconstituted in liposomes catalyzes acetylcholine transport which is defective in the mutant L503F associated to the Crohn's disease | Pochini, L; Scalise, M; Galluccio, M; Pani, Giovambattista; Siminovitch, Ka; Indiveri, C. | |
| 1-gen-2011 | The Simpson-Golabi-Behmel syndrome: a clinical case and a detective story | Gurrieri, Fiorella; Pomponi, Maria Grazia; Pietrobono, Roberta; Lucci Cordisco, Emanuela; Silvestri, Evelina; Storniello, G; Neri, Giovanni | |
| 1-gen-2015 | Towards a European consensus for reporting incidental findings during clinical NGS testing | Hehir Kwa, Jy; Claustres, M; Hastings, Rj; Van Ravenswaaij Arts, C; Christenhusz, G; Genuardi, Maurizio; Melegh, B; Cambon Thomsen, A; Patsalis, P; Vermeesch, J; Cornel, Mc; Serle, B; Palotie, A; Capoluongo, Ettore Domenico; Peterlin, B; Estivill, X; Robinson, Pn | |
| 1-gen-2013 | TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia | Lattante, Serena; Le Ber, I; Camuzat, A; Dayan, S; Godard, C; Van Bortel, I; De Septenville, A; Ciura, S; Brice, A; Kabashi, E. | |
| 1-gen-2014 | Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes | Qiao, Y; Mondal, K; Trapani, Valentina; Wen, J; Carpenter, G; Wildin, R; Price, Em; Gibbons, Rj; Eichmeyer, J; Jiang, R; Dupont, B; Martell, S; Lewis, Sm; Robinson, Wp; O'Driscoll, M; Wolf Minotti, Federica; Zwick, Me; Rajcan Separovic, E. |
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