20172019

Research output per year

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

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Research Output

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

Motta, M., Giancotti, A., Mastromoro, G., Chandramouli, B., Pinna, V., Pantaleoni, F., Di Giosaffatte, N., Petrini, S., Mazza, T., D'Ambrosio, V., Versacci, P., Ventriglia, F., Chillemi, G., Pizzuti, A., Tartaglia, M. & De Luca, A., May 6 2019, In : Human Mutation.

Research output: Contribution to journalArticle

  • Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy–Walker malformation

    Traversa, A., Bernardo, S., Paiardini, A., Giovannetti, A., Marchionni, E., Genovesi, M. L., Guadagnolo, D., Torres, B., Paolacci, S., Bernardini, L., Mazza, T., Carella, M., Caputo, V. & Pizzuti, A., Jan 1 2019, (Accepted/In press) In : Molecular Genetics and Genomic Medicine. e1054.

    Research output: Contribution to journalArticle

    Open Access