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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.

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

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Research Output 2001 2019

  • 1312 Citations
  • 18 h-Index
  • 108 Article
  • 3 Review article

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

Childhood Overgrowth Collaboration, Apr 1 2019, In : American Journal of Medical Genetics, Part A. 179, 4, p. 588-594 7 p.

Research output: Contribution to journalArticle

Intellectual Disability
Phenotype
Exome
Cryptorchidism
Growth

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

Negri, G., Magini, P., Milani, D., Crippa, M., Biamino, E., Piccione, M., Sotgiu, S., Perrìa, C., Vitiello, G., Frontali, M., Boni, A., Di Fede, E., Gandini, M. C., Colombo, E. A., Bamshad, M. J., Nickerson, D. A., Smith, J. D., Loddo, I., Finelli, P., Seri, M. & 3 othersPippucci, T., Larizza, L. & Gervasini, C., Mar 4 2019, In : Human Genetics. 138, 3, p. 257-269 13 p.

Research output: Contribution to journalArticle

Exome
Epigenomics
Genes
Intellectual Disability
Mutation
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