Sfoglia per Autore
Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung disease
2013-05-01 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
2021-01-01 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
2021-03-01 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 | Autore(i) | Tipo | File | Abstract |
|---|---|---|---|---|---|
| Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung disease | 1-mag-2013 | MATERA, IVANAD. Mavilio + | Article (author) | - | |
| Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy | 1-gen-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 | 1-mar-2021 | Matera I. + | Article (author) | - |
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