• 302 Citations
  • 9 h-Index
20122019
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Fingerprint Dive into the research topics where Marcello Niceta is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 18 Similar Profiles
Mutation Medicine & Life Sciences
Exome Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Ellis-Van Creveld Syndrome Medicine & Life Sciences
Brain Diseases Medicine & Life Sciences
Genes Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Sideroblastic Anemia Medicine & Life Sciences

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Research Output 2012 2019

  • 302 Citations
  • 9 h-Index
  • 35 Article
  • 1 Letter
Hypoventilation
Hypothalamus
Obesity
Antibodies
Cerebrospinal Fluid
Dimerization
Transcriptional Activation
Developmental Disabilities
Energy Transfer
Brain
Brain Diseases
Nervous System Malformations
Exome
Mutation
Intellectual Disability

NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations

Carli, D., Giorgio, E., Pantaleoni, F., Bruselles, A., Barresi, S., Riberi, E., Licciardi, F., Gazzin, A., Baldassarre, G., Pizzi, S., Niceta, M., Radio, F. C., Molinatto, C., Montin, D., Calvo, P. L., Ciolfi, A., Fleischer, N., Ferrero, G. B., Brusco, A. & Tartaglia, M., Mar 2 2019, In : Human Mutation.

Research output: Contribution to journalArticle

Genetic Association Studies
Neuroblastoma
Phenotype
Liver
Exome

A Child with Diminished Linear Growth and Waddling Gait

Tamaro, G., Pederiva, F., Dibello, D., Gregori, M., Carbone, M., Pantaleoni, F., Dentici, M. L., Niceta, M. & Barbi, E., Oct 2018, In : Journal of Pediatrics. 201, p. 297-297.e1

Research output: Contribution to journalArticle