• 120 Citations
  • 7 h-Index
1993 …2019
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Fingerprint Dive into the research topics where Natalia Valeria Chiavetta is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 7 Similar Profiles
Mutation Medicine & Life Sciences
Phenylalanine Hydroxylase Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenylketonurias Medicine & Life Sciences
Sicily Medicine & Life Sciences
Multiplex Polymerase Chain Reaction Medicine & Life Sciences
Alleles Medicine & Life Sciences
Exons Medicine & Life Sciences

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Research Output 1993 2019

  • 120 Citations
  • 7 h-Index
  • 14 Article
  • 1 Letter

Interpreting Genetic Variants: Hints from a Family Cluster of Parkinson's Disease

Cali, F., Cantone, M., Irene Ilaria Cosentino, F., Lanza, G., Ruggeri, G., Chiavetta, V., Salluzzo, R., Ragalmuto, A., Vinci, M. & Ferri, R., 2019, (Submitted) In : Journal of Parkinson's Disease.

Research output: Contribution to journalArticle

Parkinson Disease
Inventions
Inborn Genetic Diseases
Neurodegenerative Diseases
Genes
7 Citations (Scopus)

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform

Calì, F., Chiavetta, N. V., Ruggeri, G., Piccione, M., Selicorni, A., Palazzo, D., Bonsignore, M., Cereda, A., Elia, M., Failla, P., Figura, M. G., Fiumara, A., Maitz, S., Luana Mandarà, G. M., Mattina, T., Ragalmuto Mannino, A., Romano, C., Ruggieri, M., Salluzzo, R., Saporoso, A. & 6 others, Schepis, C., Sorge, G., Spanò, M., Tortorella, G., Salemi, M. & Damjanovicova, M., Feb 1 2017, In : European Journal of Medical Genetics. 60, 2, p. 93-99 7 p.

Research output: Contribution to journalArticle

Neurofibromatosis 1 Genes
Neurofibromatosis 1
Ions
Mutation
Mosaicism
3 Citations (Scopus)

Carrier screening for spinal muscular atrophy in Italian population

Calì, F., Ruggeri, G., Chiavetta, V., Scuderi, C., Bianca, S., Barone, C., Ragalmuto, A., Schinocca, P., Vitello, G. A., Romano, V. & Musumeci, S., 2014, In : Journal of Genetics. 93, 1, p. 179-181 3 p.

Research output: Contribution to journalArticle