Fabio Corsolini

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

Barbara Tappino, Roberta Biancheri, Matthew Mort et al. · Human Mutation · 2010 · 117 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis

Stefano Regis, Barbara Tappino, Camillo Rosano et al. · Human Mutation · 2007 · 76 citations · Full text

Medicine, Genetics, Molecular Genetics +17

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

Life Sciences, Genetics, Molecular Genetics +17

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology

Daniela De Rocco, Roberta Bottega, Enrico Cappelli et al. · Haematologica · 2014 · 56 citations · Full text

Medicine, Genetics, Hematology +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

Life Sciences, Biology, Genetics +8