Concepedia
Statistics
Publications
13
Citations
366
H-Index
12
Active since
2000
Affiliations
Istituto Giannina Gaslini(Current)
Istituti di Ricovero e Cura a Carattere Scientifico
Fondazione IRCCS Istituto Neurologico Carlo Besta
International Centre for Genetic Engineering and Biotechnology
University of Naples Federico II
Raffaella Mazzotti is an author at Istituto Giannina Gaslini specializing in medicine, genetics, and pathology.
Top concepts
MedicineGeneticsPathologyBiologyGenomicsGenetic TestingMolecular GeneticsEngineeringGenetic MedicineClinical Genetics
Publications per year
2000–2016
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients
Mirella Filocamo, Raffaella Mazzotti, Marina Stroppiano et al. · Human Mutation · 2002 · 54 citations · Full text
Engineering, Lysosomal Storage Disease, Genetics +18
Cell Line and DNA Biobank From Patients Affected by Genetic Diseases
Mirella Filocamo, Raffaella Mazzotti, Fabio Corsolini et al. · Open Journal of Bioresources · 2014 · 53 citations · Full text
Genetic Testing, Engineering, Patients Affected +28
Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene
Mirella Filocamo, Gloria Bonuccelli, Fabio Corsolini et al. · Human Mutation · 2001 · 44 citations
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks
Chiara Baldo, Lorena Casareto, Alessandra Renieri et al. · Orphanet Journal of Rare Diseases · 2016 · 35 citations · Full text
Screening of 25 Italian patients with Niemann-Pick a reveals fourteen new mutations, one common and thirteen private, inSMPD1
Verena Ricci, Marina Stroppiano, Fabio Corsolini et al. · Human Mutation · 2004 · 33 citations · Full text
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