Sfoglia per Autore
Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung disease
2013 I. Matera, M. Musso, P. Griseri, M. Rusmini, M. Di Duca, S. M. T., D. Mavilio, X. Miao, P.H. Tam, R. Ravazzolo, I. Ceccherini, M. Garcia Barcelo
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
2021 E. Bonora, S. Chakrabarty, G. Kellaris, M. Tsutsumi, F. Bianco, C. Bergamini, F. Ullah, F. Isidori, I. Liparulo, C. Diquigiovanni, L. Masin, N. Rizzardi, M.G. Cratere, E. Boschetti, V. Papa, A. Maresca, G. Cenacchi, R. Casadio, P. Martelli, I. Matera, I. Ceccherini, R. Fato, G. Raiola, S. Arrigo, S. Signa, A.R. Sementa, M. Severino, P. Striano, C. Fiorillo, T. Goto, S. Uchino, Y. Oyazato, H. Nakamura, S.K. Mishra, Y.-. Yeh, T. Kato, K. Nozu, J. Tanboon, I. Morioka, I. Nishino, T. Toda, Y.-. Goto, A. Ohtake, K. Kosaki, Y. Yamaguchi, I. Nonaka, K. Iijima, M. Mimaki, H. Kurahashi, A. Raams, A. Macinnes, M. Alders, M. Engelen, G. Linthorst, T. De Koning, W. Den Dunnen, G. Dijkstra, K. Van Spaendonck, D.C. Van Gent, E.M. Aronica, P. Picco, V. Carelli, M. Seri, N. Katsanis, F.A.M. Duijkers, M. Taniguchi-Ikeda, R. De Giorgio
Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction
2021 I. Matera, D. Bordo, M. Di Duca, M. Lerone, G. Santamaria, M. Pongiglione, A. Lezo, A. Diamanti, M.I. Spagnuolo, A. Pini Prato, D. Alberti, G. Mattioli, P. Gandullia, I. Ceccherini
| Titolo | Data di pubblicazione | Autori | Tipo | File | Abstract |
|---|---|---|---|---|---|
| Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung disease | 2013 | MATERA, IVANAD. Mavilio + | Article (author) | - | |
| Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy | 2021 | Martelli P.Matera I.Picco P. + | Article (author) | - | |
| Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction | 2021 | Matera I. + | Article (author) | - |
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