• 30734 Citations
  • 76 h-Index
1964 …2019
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Fingerprint Dive into the research topics where Bruno Dallapiccola is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 48 Similar Profiles
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Chromosomes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
DiGeorge Syndrome Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Congenital Heart Defects Medicine & Life Sciences
Noonan Syndrome Medicine & Life Sciences

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Research Output 1964 2019

  • 30734 Citations
  • 76 h-Index
  • 985 Article
  • 11 Chapter
  • 3 Review article
  • 1 Book
Intellectual Disability
Siblings
Genes
Chromosome Duplication
Splenomegaly

A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome

Alesi, V., Loddo, S., Calì, F., Orlando, V., Genovese, S., Ferretti, D., Calacci, C., Calvieri, G., Falasca, R., Ulgheri, L., Drago, F., Dallapiccola, B., Baban, A. & Novelli, A., May 30 2019, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Phenotype
Nose
Language Development Disorders
Haploinsufficiency
Muscle Hypotonia

Association of Bright Liver with the PNPLA3 I148M Gene Variant in 1-year-old Toddlers

Bedogni, G., De Matteis, G., Fabrizi, M., Alisi, A., Crudele, A., Pizzolante, F., Signore, F., Dallapiccola, B., Nobili, V. & Manco, M., Jan 14 2019, In : The Journal of clinical endocrinology and metabolism.

Research output: Contribution to journalArticle

Liver
Genes
Mothers
Anthropometry
Ultrasonography

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog

Digilio, M. C., Pugnaloni, F., De Luca, A., Calcagni, G., Baban, A., Dentici, M. L., Versacci, P., Dallapiccola, B., Tartaglia, M. & Marino, B., 2019, In : Clinical Genetics. 95, 2, p. 268-276 9 p.

Research output: Contribution to journalArticle

Exome
Cost-Benefit Analysis
diagnostic
costs
Sick Role