• 218 Citations
  • 7 h-Index
19962019
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Fingerprint Dive into the research topics where Marina Macchiaiolo is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 7 Similar Profiles
Beckwith-Wiedemann Syndrome Medicine & Life Sciences
Methylation Medicine & Life Sciences
Genetic Association Studies Medicine & Life Sciences
Fetal Development Medicine & Life Sciences
Incidental Findings Medicine & Life Sciences
Pediatrics Medicine & Life Sciences
Hypertriglyceridemia Medicine & Life Sciences
Uniparental Disomy Medicine & Life Sciences

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Research Output 1996 2019

  • 218 Citations
  • 7 h-Index
  • 41 Article
  • 1 Comment/debate
  • 1 Review article

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement

Zollino, M., Zweier, C., Van Balkom, I. D., Sweetser, D. A., Alaimo, J., Bijlsma, E. K., Cody, J., Elsea, S. H., Giurgea, I., Macchiaiolo, M., Smigiel, R., Thibert, R. L., Benoist, I., Clayton-Smith, J., De Winter, C. F., Deckers, S., Gandhi, A., Huisman, S., Kempink, D., Kruisinga, F. & 12 others, Lamacchia, V., Marangi, G., Menke, L., Mulder, P., Nordgren, A., Renieri, A., Routledge, S., Saunders, C. J., Stembalska, A., Van Balkom, H., Whalen, S. & Hennekam, R. C., Apr 2019, In : Clinical Genetics. 95, 4, p. 462-478 17 p.

Research output: Contribution to journalReview article

Molecular Pathology
Consensus
Respiration
Self-Help Groups
Autonomic Nervous System

Dissecting the mechanisms of bone loss in Gorham-Stout disease

Rossi, M., Buonuomo, P. S., Battafarano, G., Conforti, A., Mariani, E., Algeri, M., Pelle, S., D'Agostini, M., Macchiaiolo, M., De Vito, R., Gonfiantini, M. V., Jenkner, A., Rana, I., Bartuli, A. & Del Fattore, A., Sep 13 2019, In : Bone. p. 115068

Research output: Contribution to journalArticle

Essential Osteolysis
Bone and Bones
Osteoclasts
Serum
Osteoblasts

Statins in children: A monocentric experience

Buonuomo, P. S., Mastrogiorgio, G., Macchiaiolo, M., Rana, I., Gonfiantini, M. V., Marafon, D. P. & Bartuli, A., Jul 24 2018, In : Journal of Clinical Lipidology. 12, 5, p. 1326-1327 2 p.

Research output: Contribution to journalArticle

Hyperlipoproteinemia Type II
Blood Component Removal
LDL Cholesterol
Pediatrics
Cardiovascular Diseases
3 Citations (Scopus)
Adenylosuccinate Lyase
Exome
Brain
Seizures
Purine Nucleotides