1987 …2020

Research output per year

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Research Output

Mowat-Wilson syndrome: Growth charts

Ivanovski, I., Ivanovski, I., Ivanovski, I., Djuric, O., Djuric, O., Broccoli, S., Caraffi, S. G., Accorsi, P., Adam, M. P., Avela, K., Badura-Stronka, M., Bayat, A., Bayat, A., Clayton-Smith, J., Clayton-Smith, J., Cocco, I., Cordelli, D. M., Cuturilo, G., Cuturilo, G., Di Pisa, V. & 30 others, Dupont Garcia, J., Gastaldi, R., Giordano, L., Guala, A., Hoei-Hansen, C., Inaba, M., Iodice, A., Nielsen, J. E. K., Kuburovic, V., Kuburovic, V., Lazalde-Medina, B., Malbora, B., Mizuno, S., Moldovan, O., Møller, R. S., Møller, R. S., Muschke, P., Otelli, V., Pantaleoni, C., Piscopo, C., Poch-Olive, M. L., Prpic, I., Marín Reina, P., Raviglione, F., Ricci, E., Scarano, E., Savasta, S., Street, M. E., Giorgi Rossi, P. & Garavelli, L., Jun 15 2020, In : Orphanet Journal of Rare Diseases. 15, 1, 151.

Research output: Contribution to journalArticle

Open Access
  • Alazami syndrome: the first case of papillary thyroid carcinoma

    Ivanovski, I., Caraffi, S. G., Magnani, E., Rosato, S., Pollazzon, M., Matalonga, L., Piana, S., Nicoli, D., Baldo, C., Bernasconi, S., Frasoldati, A., Zuffardi, O. & Garavelli, L., Oct 28 2019, In : Journal of Human Genetics.

    Research output: Contribution to journalArticle

  • Severe peripheral joint laxity is a distinctive clinical feature of spondylodysplastic-ehlersdanlos syndrome (Eds)-b4galt7 and spondylodysplastic-eds-b3galt6

    Caraffi, S. G., Maini, I., Ivanovski, I., Pollazzon, M., Giangiobbe, S., Valli, M., Rossi, A., Sassi, S., Faccioli, S., Rocco, M. D., Magnani, C., Campos-Xavier, B., Unger, S., Superti-Furga, A. & Garavelli, L., Oct 2019, In : Genes. 10, 10, 799.

    Research output: Contribution to journalArticle

    Open Access
  • Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic study

    Di Pisa, V., Provini, F., Ubertiello, S., Bonetti, S., Ricci, E., Ivanovski, I., Caraffi, S. G., Giordano, L., Accorsi, P., Savasta, S., Raviglione, F., Boni, A., Grioni, D., Graziano, C., Garavelli, L. & Cordelli, D. M., Jan 1 2019, In : Sleep Medicine.

    Research output: Contribution to journalArticle

  • Anesthesia in Mowat-Wilson syndrome: Information on 11 Italian patients

    Spunton, M., Garavelli, L., Mainardi, P. C., Emmig, U., Finale, E. & Guala, A., Jan 1 2018, In : Pediatric Reports. 10, 1, p. 14-16 3 p.

    Research output: Contribution to journalArticle