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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

Aortic dilation in Sotos syndrome: An underestimated feature?

Pezzani, L., Mauri, L., Selicorni, A., Peron, A., Grasso, M., Codazzi, A. C., Rimini, A., Marchisio, P. G., Coviello, D., Colli, A. & Milani, D., Jan 1 2020, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalLetter

Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder

Squeo, G. M., Augello, B., Massa, V., Milani, D., Colombo, E. A., Mazza, T., Castellana, S., Piccione, M., Maitz, S., Petracca, A., Prontera, P., Accadia, M., Della Monica, M., Di Giacomo, M. C., Melis, D., Selicorni, A., Giglio, S., Fischetto, R., Di Fede, E., Malerba, N. & 4 others, Russo, M., Castori, M., Gervasini, C. & Merla, G., Jan 1 2020, (Accepted/In press) In : Journal of Medical Genetics. jmedgenet-2019-106724.

Research output: Contribution to journalArticle

  • Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations

    Accogli, A., Severino, M., Riva, A., Madia, F., Balagura, G., Iacomino, M., Carlini, B., Baldassari, S., Giacomini, T., Croci, C., Pisciotta, L., Messana, T., Boni, A., Russo, A., Bilo, L., Tonziello, R., Coppola, A., Filla, A., Mecarelli, O., Casalone, R. & 19 others, Pisani, F., Falsaperla, R., Marino, S., Parisi, P., Ferretti, A., Elia, M., Luchetti, A., Milani, D., Vanadia, F., Silvestri, L., Rebessi, E., Parente, E., Vatti, G., Mancardi, M. M., Nobili, L., Capra, V., Salpietro, V., Striano, P. & Zara, F., Aug 2020, In : Seizure. 80, p. 145-152 8 p.

    Research output: Contribution to journalArticle

  • 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