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

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Research Output

Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients

Bianchessi, D., Ibba, M. C., Saletti, V., Blasa, S., Langella, T., Paterra, R., Cagnoli, G. A., Melloni, G., Scuvera, G., Natacci, F., Cesaretti, C., Finocchiaro, G. & Eoli, M., Jun 19 2020, In : Genes. 11, 6

Research output: Contribution to journalArticle

Open Access
  • Unexpected phenotype in a frameshift mutation of PTCH1

    Beltrami, B., Prada, E., Tolva, G., Scuvera, G., Silipigni, R., Graziani, D., Bulfamante, G., Gervasini, C., Marchisio, P. & Milani, D., 2020, In : Molecular Genetics and Genomic Medicine. 8, 1, e987.

    Research output: Contribution to journalArticle

    Open Access
  • Risk of optic pathway glioma in neurofibromatosis type 1: No evidence of genotype–phenotype correlations in a large independent cohort

    Melloni, G., Eoli, M., Cesaretti, C., Bianchessi, D., Ibba, M. C., Esposito, S., Scuvera, G., Morcaldi, G., Micheli, R., Piozzi, E., Avignone, S., Chiapparini, L., Pantaleoni, C., Natacci, F., Finocchiaro, G. & Saletti, V., Dec 2019, In : Cancers. 11, 12, 1838.

    Research output: Contribution to journalArticle

    Open Access
  • 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