Concepedia
Statistics
Publications
8
Citations
175
H-Index
Active since
2014
Affiliations
University of Florence(Current)
Meyer Children's Hospital
Azienda Ospedaliera San Gerardo
Istituto Giannina Gaslini
National Research Council
Rodolfo Tonin is an author at University of Florence specializing in pathology, medicine, and lysosomal storage disease.
Top concepts
MedicinePathologyGeneticsGenomicsDiagnosisHematologyPathogenesisBioinformaticsHistopathologyNeuropathology
Publications per year
2014–2021
Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation
Rodolfo Tonin, Anna Caciotti, Silvia Funghini et al. · BBA Clinical · 2016 · 35 citations · Full text
Carbon Nanotubes/Regenerated Silk Composite as a Three-Dimensional Printable Bio-Adhesive Ink with Self-Powering Properties
Silvia Bittolo Bon, Irene Chiesa, Micaela Degli Esposti et al. · ACS Applied Materials & Interfaces · 2021 · 34 citations · Full text
Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations
Anna Caciotti, Rodolfo Tonin, Miriam Rigoldi et al. · Human Mutation · 2014 · 29 citations
Novel Methods, Molecular Diagnosis, Genetics +16
High frequency of biotinidase deficiency in Italian population identified by newborn screening
Silvia Funghini, Rodolfo Tonin, Sabrina Malvagia et al. · Molecular Genetics and Metabolism Reports · 2020 · 21 citations · Full text
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease
Anna Caciotti, Rodolfo Tonin, Matthew Mort et al. · BMC Medical Genetics · 2018 · 20 citations · Full text
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