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Research Output

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

  • A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome

    Paganini, L., Pesenti, C., Milani, D., Fontana, L., Motta, S., Sirchia, S. M., Scuvera, G., Marchisio, P., Esposito, S., Cinnante, C. M., Tabano, S. M. & Miozzo, M. R., 2018, In : American Journal of Medical Genetics, Part A. 176, 6, p. 1427-1431

    Research output: Contribution to journalArticle

  • Molecular profiling of lung cancer specimens and liquid biopsies using MALDI-TOF mass spectrometry

    Bonaparte, E., Pesenti, C., Fontana, L., Falcone, R., Paganini, L., Marzorati, A., Ferrero, S., Nosotti, M., Mendogni, P., Bareggi, C., Sirchia, S. M., Tabano, S., Bosari, S. & Miozzo, M., Jan 12 2018, In : Diagnostic Pathology. 13, 1, 4.

    Research output: Contribution to journalArticle

  • Sequence variants identification at the KCNQ1OT1: TSS differentially Methylated region in isolated omphalocele cases

    Bedeschi, M. F., Calvello, M., Paganini, L., Pezzani, L., Baccarin, M., Fontana, L., Sirchia, S. M., Guerneri, S., Canazza, L., Leva, E., Colombo, L., Lalatta, F., Mosca, F., Tabano, S. & Miozzo, M., Oct 18 2017, In : BMC Medical Genetics. 18, 1, 115.

    Research output: Contribution to journalArticle