20172019

Research output per year

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Research Output

Neonatal Screening for Congenital Hypothyroidism: What Can We Learn from Discordant Twins

Medda, E., Vigone, M. C., Cassio, A., Calaciura, F., Costa, P., Weber, G., De Filippis, T., Gelmini, G., Di Frenna, M., Caiulo, S., Ortolano, R., Rotondi, D., Bartolucci, M., Gelsomino, R., De Angelis, S., Gabbianelli, M., Persani, L. & Olivieri, A., Aug 13 2019, In : Journal of Clinical Endocrinology and Metabolism. 104, 12, p. 5765-5779 15 p.

Research output: Contribution to journalArticle

  • Neonatal Screening for Congenital Hypothyroidism: What Can We Learn From Discordant Twins?

    Medda, E., Vigone, M. C., Cassio, A., Calaciura, F., Costa, P., Weber, G., de Filippis, T., Gelmini, G., Di Frenna, M., Caiulo, S., Ortolano, R., Rotondi, D., Bartolucci, M., Gelsomino, R., De Angelis, S., Gabbianelli, M., Persani, L. & Olivieri, A., Jul 1 2019, In : Journal of Clinical Endocrinology and Metabolism. 104, 12, p. 5765-5779 15 p.

    Research output: Contribution to journalArticle

    A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature

    Crippa, M., Giangiobbe, S., Villa, R., Bestetti, I., De Filippis, T., Fatti, L., Taurino, J., Larizza, L., Persani, L., Bellini, F., Finelli, P. & Bonati, M. T., Aug 1 2018, In : Journal of Endocrinological Investigation. 41, 8, p. 929-936 8 p.

    Research output: Contribution to journalArticle

  • Genetics and management of congenital hypothyroidism

    Persani, L., Rurale, G., de Filippis, T., Galazzi, E., Muzza, M. & Fugazzola, L., Aug 1 2018, In : Best Practice and Research: Clinical Endocrinology and Metabolism. 32, 4, p. 387-396 10 p.

    Research output: Contribution to journalReview article