20042019

Research output per year

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Research Output

'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22

Tassano, E., Ronchetto, P., Calcagno, A., Fiorio, P., Gimelli, G., Capra, V. & Scala, M., Jun 2019, In : Journal of Genetics. 98, 2

Research output: Contribution to journalArticle

  • Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

    Undiagnosed Diseases Network, Dec 3 2018, In : EMBO Journal. 37, 23

    Research output: Contribution to journalArticle

  • Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome

    Tassano, E., Giacomini, T., Severino, M., Gamucci, A., Fiorio, P., Gimelli, G. & Ronchetto, P., 2017, In : Cytogenetic and Genome Research. 152, 1, p. 22-28 7 p.

    Research output: Contribution to journalArticle