Concepedia

Raffaella Mazzotti

RM

Statistics

Publications

13

Citations

374

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 genetics, molecular genetics, and genetic disorders.

Publications per year

2000–2016

13

Publications

13

Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients

Mirella Filocamo, Raffaella Mazzotti, Marina Stroppiano et al. · Human Mutation · 2002 · 56 citations · Full text

, , +17

Cell Line and DNA Biobank From Patients Affected by Genetic Diseases

Mirella Filocamo, Raffaella Mazzotti, Fabio Corsolini et al. · Open Journal of Bioresources · 2014 · 55 citations · Full text

, , +8

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 · 45 citations

, , +16

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 · 37 citations · Full text

, , +11

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

, , +17

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