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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.

  • 33 Similar Profiles
De Lange Syndrome Medicine & Life Sciences
Rubinstein-Taybi Syndrome Medicine & Life Sciences
Beckwith-Wiedemann Syndrome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genetic Association Studies Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences

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Research Output 2001 2018

  • 1271 Citations
  • 17 h-Index
  • 106 Article
  • 3 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

Mosaicism
Biological Science Disciplines
Blood
Phenotype
Interphase

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., Jan 1 2018, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome

Paganini, L., Pesenti, C., Milani, D., Fontana, L., Motta, S., Sirchia, S. M., Scuvera, G., Marchisio, P., Esposito, S., Cinnante, C. M., Tabano, S. M. & Miozzo, M. R., 2018, In : American Journal of Medical Genetics, Part A. 176, 6, p. 1427-1431

Research output: Contribution to journalArticle

Recessive Genes
Inheritance Patterns
Exons
Aniridia
Exome