20172019

Research output per year

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Fingerprint Dive into the research topics where Fabio Sirchia is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Research Output

Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification

Giorgio, E., Garelli, E., Carando, A., Bellora, S., Rubino, E., Quarello, P., Sirchia, F., Marrama, F., Gallone, S., Grosso, E., Pasini, B., Massa, R., Brussino, A. & Brusco, A., Nov 1 2019, In : Journal of Human Genetics. 64, 11, p. 1083-1090 8 p.

Research output: Contribution to journalArticle

  • Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome

    Gazzin, A., Carli, D., Sirchia, F., Molinatto, C., Cardaropoli, S., Palumbo, G., Zampino, G., Ferrero, G. B. & Mussa, A., 2019, In : American Journal of Medical Genetics, Part A. 179, 9, p. 1691-1702 12 p.

    Research output: Contribution to journalArticle

    Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome

    Gazzin, A., Carli, D., Sirchia, F., Molinatto, C., Cardaropoli, S., Palumbo, G., Zampino, G., Ferrero, G. B. & Mussa, A., Sep 2019, In : American journal of medical genetics. Part A. 179, 9, p. 1691-1702 12 p.

    Research output: Contribution to journalArticle

  • Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy

    Mancini, C., Giorgio, E., Rubegni, A., Pradotto, L., Bagnoli, S., Rubino, E., Prontera, P., Cavalieri, S., Di Gregorio, E., Ferrero, M., Pozzi, E., Riberi, E., Ferrero, P., Nigro, P., Mauro, A., Zibetti, M., Tessa, A., Barghigiani, M., Antenora, A., Sirchia, F. & 7 others, Piacentini, S., Silvestri, G., De Michele, G., Filla, A., Orsi, L., Santorelli, F. M. & Brusco, A., Jan 2019, In : European Journal of Neurology. 26, 1, p. 80-86 7 p.

    Research output: Contribution to journalArticle

  • Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency

    Valencic, E., Piscianz, E., Sirchia, F., Tommasini, A., Faletra, F., Todaro, F., Spinelli, A. M. & Badolato, R., Oct 2019, In : Immunology Letters. 214, p. 52-54 3 p.

    Research output: Contribution to journalLetter