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

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Research Output

Unexpected phenotype in a frameshift mutation of PTCH1

Beltrami, B., Prada, E., Tolva, G., Scuvera, G., Silipigni, R., Graziani, D., Bulfamante, G., Gervasini, C., Marchisio, P. & Milani, D., 2020, In : Molecular Genetics and Genomic Medicine. 8, 1, e987.

Research output: Contribution to journalArticle

Open Access
  • A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins

    Paganini, L., Hadi, L. A., Chetta, M., Rovina, D., Fontana, L., Colapietro, P., Bonaparte, E., Pezzani, L., Marchisio, P., Tabano, S. M., Costanza, J., Sirchia, S. M., Riboni, L., Milani, D. & Miozzo, M., 2019, In : Clinical Genetics. 95, 3, p. 368-374

    Research output: Contribution to journalArticle

  • Characterization of intellectual disability and autism comorbidity through gene panel sequencing

    Aspromonte, M. C., Bellini, M., Gasparini, A., Carraro, M., Bettella, E., Polli, R., Cesca, F., Bigoni, S., Boni, S., Carlet, O., Negrin, S., Mammi, I., Milani, D., Peron, A., Sartori, S., Toldo, I., Soli, F., Turolla, L., Stanzial, F., Benedicenti, F. & 4 others, Marino-Buslje, C., Tosatto, S. C. E., Murgia, A. & Leonardi, E., Jan 1 2019, In : Human Mutation. 40, 9, p. 1346-1363 13 p.

    Research output: Contribution to journalArticle

    Open Access
  • Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience

    Ciaccio, C., Saletti, V., D'Arrigo, S., Esposito, S., Alfei, E., Moroni, I., Tonduti, D., Chiapparini, L., Pantaleoni, C. & Milani, D., 2019, In : European Journal of Medical Genetics. 62, 12, 103596.

    Research output: Contribution to journalArticle

  • EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome

    Childhood Overgrowth Collaboration, Griffiths, S., Loveday, C., Zachariou, A., Behan, L. A., Chandler, K., Cole, T., D'Arrigo, S., Dieckmann, A., Foster, A., Gibney, J., Hunter, M., Milani, D., Pantaleoni, C., Roche, E., Sherlock, M., Springer, A., White, S. M. & Tatton-Brown, K., Apr 1 2019, In : American Journal of Medical Genetics, Part A. 179, 4, p. 588-594 7 p.

    Research output: Contribution to journalArticle