Concepedia
Statistics
Publications
43
Citations
2.2K
H-Index
23
Active since
1994
Affiliations
Istituto Giannina Gaslini(Current)
Istituti di Ricovero e Cura a Carattere Scientifico
University of Genoa
Cardiff University
Bambino Gesù Children's Hospital
Stefano Regis is an author at Istituto Giannina Gaslini specializing in life sciences, molecular genetics, and genetics.
Publications per year
1994–2023
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
Silvia Bione, Elena Maestrini, Stefano Rivella et al. · Nature Genetics · 1994 · 885 citations
Life Sciences, Genetics, Molecular Genetics +10
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
TGF-β1 Downregulates the Expression of CX3CR1 by Inducing miR-27a-5p in Primary Human NK Cells
Stefano Regis, Fabio Caliendo, Alessandra Dondero et al. · Frontiers in Immunology · 2017 · 66 citations · Full text
Life Sciences, Immunology, Oncology +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
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