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Research Output

2019

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

2018

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

2017

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

STAR syndrome plus: The first description of a female patient with the lethal form

Bedeschi, M. F., Giangiobbe, S., Paganini, L., Tabano, S., Silipigni, R., Colombo, L., Crippa, B. L., Lalatta, F., Guerneri, S. & Miozzo, M., 2017, In : American Journal of Medical Genetics, Part A. 173, 12, p. 3226-3230

Research output: Contribution to journalArticle