• 1786 Citations
  • 24 h-Index
If you made any changes in Pure these will be visible here soon.

Fingerprint Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 20 Similar Profiles
Chromosomes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Fluorescence In Situ Hybridization Medicine & Life Sciences
Genes Medicine & Life Sciences
Beckwith-Wiedemann Syndrome Medicine & Life Sciences
Cytogenetics Medicine & Life Sciences
Rubinstein-Taybi Syndrome Medicine & Life Sciences
Human Chromosomes Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 1994 2019

  • 1786 Citations
  • 24 h-Index
  • 88 Article
  • 3 Comment/debate
  • 2 Review article

13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome-case report and review of the literature 06 Biological Sciences 0604 Genetics

Bestetti, I., Sironi, A., Catusi, I., Mariani, M., Giardino, D., Manoukian, S., Milani, D., Larizza, L., Castronovo, C. & Finelli, P., Sep 19 2018, In : Molecular Cytogenetics. 11, 1, 53.

Research output: Contribution to journalReview article

Biological Science Disciplines
1 Citations

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