20172019

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A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins

Paganini, L., Hadi, L. A., Chetta, M., Rovina, D., Fontana, L., Colapietro, P., Bonaparte, E., Pezzani, L., Marchisio, P., Tabano, S. M., Costanza, J., Sirchia, S. M., Riboni, L., Milani, D. & Miozzo, M., 2019, In : Clinical Genetics. 95, 3, p. 368-374

Research output: Contribution to journalArticle

Derivation of the Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line lacking DMD exons 49 and 50 (CCMi001DMD-A-3, ∆49, ∆50)

Spaltro, G., Vigorelli, V., Casalnuovo, F., Spinelli, P., Castiglioni, E., Rovina, D., Paganini, S., Di Segni, M., Nigro, P., Gervasini, C., Pompilio, G. & Gowran, A., Dec 2017, In : Stem Cell Research. 25, p. 128-131 4 p.

Research output: Contribution to journalArticle

Open Access

Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 ∆45-55)

Gowran, A., Spaltro, G., Casalnuovo, F., Vigorelli, V., Spinelli, P., Castiglioni, E., Rovina, D., Paganini, S., Di Segni, M., Gervasini, C., Nigro, P. & Pompilio, G., Apr 1 2018, In : Stem Cell Research. 28, p. 21-24 4 p.

Research output: Contribution to journalArticle

Open Access