• 1202 Citations
  • 18 h-Index
1983 …2019
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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.

  • 26 Similar Profiles
Cytogenetics Medicine & Life Sciences
Prader-Willi Syndrome Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Chromosomes Medicine & Life Sciences
Fluorescence In Situ Hybridization Medicine & Life Sciences
Genetic Association Studies Medicine & Life Sciences
Genetic Markers Medicine & Life Sciences
Rubinstein-Taybi Syndrome Medicine & Life Sciences

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Research Output 1983 2019

  • 1202 Citations
  • 18 h-Index
  • 75 Article
  • 2 Review article
  • 1 Letter

European guidelines for constitutional cytogenomic analysis

Silva, M., de Leeuw, N., Mann, K., Schuring-Blom, H., Morgan, S., Giardino, D., Rack, K. & Hastings, R., Jan 2019, In : European Journal of Human Genetics. 27, 1, p. 1-16 16 p.

Research output: Contribution to journalReview article

Chromosome Disorders
Guidelines
Technology
Genetic Techniques
Cytogenetics
Mosaicism
Blood
Phenotype
Interphase
Fluorescence In Situ Hybridization

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
Rubinstein-Taybi Syndrome
Induced Pluripotent Stem Cells
Exons
Cell Line
Mutation