• 6200 Citations
  • 41 h-Index
1969 …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.

  • 27 Similar Profiles
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Genes Medicine & Life Sciences
De Lange Syndrome Medicine & Life Sciences
Chromosomes Medicine & Life Sciences
Fluorescence In Situ Hybridization Medicine & Life Sciences
Beckwith-Wiedemann Syndrome Medicine & Life Sciences
Cytogenetics Medicine & Life Sciences

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Research Output 1969 2019

Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings

Concolino, D., Sestito, S., Falvo, F., Romano, G., Ceravolo, M., Anastasio, E., Pensabene, L., Colombo, E. A. & Larizza, L., Jan 2019, In : European Journal of Medical Genetics. 62, 1, p. 73-76 4 p.

Research output: Contribution to journalArticle

Siblings
Phenotype
Poikiloderma with Neutropenia
Skin Neoplasms
Cataract
Intellectual Disability
Chromatin
Epigenomics
Rubinstein-Taybi Syndrome
Developmental Disabilities

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