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Alfonsina Tirozzi

20172019

Research output per year

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Research Output

Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy

Nutile, T., Ruggiero, D., Herzig, A. F., Tirozzi, A., Nappo, S., Sorice, R., Marangio, F., Bellenguez, C., Leutenegger, A. L. & Ciullo, M., Mar 11 2019, In : Scientific Reports. 9, 1, p. 4059

Research output: Contribution to journalArticle

  • Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation

    Napolitano, F., Di Iorio, V., Testa, F., Tirozzi, A., Reccia, M. G., Lombardi, L., Farina, O., Simonelli, F., Gianfrancesco, F., Di Iorio, G., Melone, M. A. B., Esposito, T. & Sampaolo, S., May 1 2018, In : Clinical Genetics. 93, 5, p. 982-991 10 p.

    Research output: Contribution to journalArticle

  • Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix

    Sampaolo, S., Napolitano, F., Tirozzi, A., Reccia, M. G., Lombardi, L., Farina, O., Barra, A., Cirillo, F., Melone, M. A. B., Gianfrancesco, F., Iorio, G. D. & Esposito, T., Oct 2017, In : Journal of Medical Genetics. 54, 10, p. 710-720 11 p.

    Research output: Contribution to journalArticle