• 1158 Citations
  • 19 h-Index
19992019
If you made any changes in Pure these will be visible here soon.

Research Output 1999 2019

  • 1158 Citations
  • 19 h-Index
  • 116 Article
  • 2 Letter
  • 1 Review article
Filter
Review article
2017
6 Citations (Scopus)

Congenital myopathies: clinical phenotypes and new diagnostic tools

Lenzi, S., Cassandrini, D., Fiorillo, C., Baldacci, J., Minetti, C., Astrea, G., Bruno, C., Santorelli, F. M. & Italian Network on Congenital Myopathies, Nov 15 2017, In : Italian Journal of Pediatrics. 43, 1, p. 101

Research output: Contribution to journalReview article

Myotonia Congenita
Phenotype
Inborn Genetic Diseases
Muscle Hypotonia
Genetic Heterogeneity