OPPO, Manuela
OPPO, Manuela
Universita' degli Studi di SASSARI
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman
2017-01-01 Palombo, F; Al Wardy, N; Ruscone, G. A. G; Oppo, Manuela; Kindi, M. N. A; Angius, Andrea; Al Lamki, K; Girotto, G; Giangregorio, T; Benelli, M; Magi, A; Seri, M; Gasparini, P; Cucca, Francesco; Sazzini, M; Al Khabori, M; Pippucci, T; Romeo, G.
Discovering rare-disease-causing genes in the Whole Exome Sequencing (WES) era: analysis of a heterogeneous cohort of families with rare Mendelian diseases
2017-01-01 Oppo, Manuela
Exome sequencing in Crisponi/cold-induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses
2019-01-01 Angius, Andrea; Uva, Paolo; Oppo, Manuela; Buers, Insa; Persico, Ivana; Onano, Stefano; Cuccuru, Gianmauro; Van Allen, Margot I.; Hulait, Gurdip; Aubertin, Gudrun; Muntoni, Francesco; Fry, Andrew E.; Anneren, Goeran; Stattin, Eva-Lena; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Cucca, Francesco; Crisponi, Giangiorgio; Rutsch, Frank; Crisponi, Laura
Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: A case report
2019-01-01 Alves, Rita Maria; Uva, Paolo; Veiga, Marielza F.; Oppo, Manuela; Zschaber, Fabiana C. R.; Porcu, Giampiero; Porto, Henrique P.; Persico, Ivana; Onano, Stefano; Cuccuru, Gianmauro; Atzeni, Rossano; Vieira, Lauro C. N.; Pires, Marcos V. A.; Cucca, Francesco; Toralles, Maria Betania P.; Angius, Andrea; Crisponi, Laura
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman | 1-gen-2017 | Palombo, F; Al Wardy, N; Ruscone, G. A. G; Oppo, Manuela; Kindi, M. N. A; Angius, Andrea; Al Lamki, K; Girotto, G; Giangregorio, T; Benelli, M; Magi, A; Seri, M; Gasparini, P; Cucca, Francesco; Sazzini, M; Al Khabori, M; Pippucci, T; Romeo, G. | |
| Discovering rare-disease-causing genes in the Whole Exome Sequencing (WES) era: analysis of a heterogeneous cohort of families with rare Mendelian diseases | 1-gen-2017 | Oppo, Manuela | |
| Exome sequencing in Crisponi/cold-induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses | 1-gen-2019 | Angius, Andrea; Uva, Paolo; Oppo, Manuela; Buers, Insa; Persico, Ivana; Onano, Stefano; Cuccuru, Gianmauro; Van Allen, Margot I.; Hulait, Gurdip; Aubertin, Gudrun; Muntoni, Francesco; Fry, Andrew E.; Anneren, Goeran; Stattin, Eva-Lena; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Cucca, Francesco; Crisponi, Giangiorgio; Rutsch, Frank; Crisponi, Laura | |
| Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: A case report | 1-gen-2019 | Alves, Rita Maria; Uva, Paolo; Veiga, Marielza F.; Oppo, Manuela; Zschaber, Fabiana C. R.; Porcu, Giampiero; Porto, Henrique P.; Persico, Ivana; Onano, Stefano; Cuccuru, Gianmauro; Atzeni, Rossano; Vieira, Lauro C. N.; Pires, Marcos V. A.; Cucca, Francesco; Toralles, Maria Betania P.; Angius, Andrea; Crisponi, Laura |