20162019

Research output per year

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Research Output

Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss

Lenarduzzi, S., Morgan, A., Faletra, F., Cappellani, S., Morgutti, M., Mezzavilla, M., Peruzzi, A., Ghiselli, S., Ambrosetti, U., Graziano, C., Seri, M., Gasparini, P. & Girotto, G., Sep 15 2019, In : Hearing Research. 381, 107769.

Research output: Contribution to journalArticle

  • Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss

    Lenarduzzi, S., Morgan, A., Faletra, F., Cappellani, S., Morgutti, M., Mezzavilla, M., Peruzzi, A., Ghiselli, S., Ambrosetti, U., Graziano, C., Seri, M., Gasparini, P. & Girotto, G., Sep 15 2019, In : Hearing Research. 381, p. 107769 1 p.

    Research output: Contribution to journalArticle

  • Genome-wide meta-analysis unravels interactions between magnesium homeostasis and metabolic phenotypes

    Corre, T., Arjona, F. J., Hayward, C., Youhanna, S., De Baaij, J. H. F., Belge, H., Nägele, N., Debaix, H., Blanchard, M. G., Traglia, M., Harris, S. E., Ulivi, S., Rueedi, R., Lamparter, D., Macé, A., Sala, C., Lenarduzzi, S., Ponte, B., Pruijm, M., Ackermann, D. & 21 others, Ehret, G., Baptista, D., Polasek, O., Rudan, I., Hurd, T. W., Hastie, N. D., Vitart, V., Waeber, G., Kutalik, Z., Bergmann, S., Vargas-Poussou, R., Konrad, M., Gasparini, P., Deary, I. J., Starr, J. M., Toniolo, D., Vollenweider, P., Hoenderop, J. G. J., Bindels, R. J. M., Bochud, M. & Devuyst, O., Jan 1 2018, In : Journal of the American Society of Nephrology. 29, 1, p. 335-348 14 p.

    Research output: Contribution to journalArticle

  • Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.

    Morgan, A., Lenarduzzi, S., Cappellani, S., Pecile, V., Morgutti, M., Orzan, E., Ghiselli, S., Ambrosetti, U., Brumat, M., Gajendrarao, P., Bianca, M. L., Faletra, F., Grosso, E., Sirchia, F., Sensi, A., Graziano, C., Seri, M., Gasparini, P. & Girotto, G., 2018, In : Frontiers in Genetics. 2018 Dec 21, 9:681, p. 681

    Research output: Contribution to journalArticle

    Open Access