• 3 Citations
  • 1 h-Index
20172019
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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.

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Induced Pluripotent Stem Cells Medicine & Life Sciences
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Research Output 2017 2019

  • 3 Citations
  • 1 h-Index
  • 9 Article

A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins

Paganini, L., Hadi, L. A., Chetta, M., Rovina, D., Fontana, L., Colapietro, P., Bonaparte, E., Pezzani, L., Marchisio, P., Tabano, S. M., Costanza, J., Sirchia, S. M., Riboni, L., Milani, D. & Miozzo, M., 2019, In : Clinical Genetics. 95, 3, p. 368-374

Research output: Contribution to journalArticle

Myopia
Intellectual Disability
Exome
Genes
Phosphoadenosine Phosphosulfate
Dystrophin
Precision Medicine
Molecular Evolution
Cardiomyopathies
Muscular Dystrophies
Dystrophin
Duchenne Muscular Dystrophy
Cardiac Myocytes
Fibrosis
Inbred mdx Mouse
Induced Pluripotent Stem Cells
Dystrophin
Duchenne Muscular Dystrophy
Exons
Genes