Rothmund-Thomson syndrome
2010 · Orphanet Journal of Rare Diseases · 289 citations
https://doi.org/10.1186/1750-1172-5-2
L
Ludovica Volpi
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Ludovica Volpi is an academic researcher from University of Milan. The author has contributed to research in topics: RNA Research and Splicing & RNA modifications and cancer & DNA Repair Mechanisms. The author has an h-index of 7, co-authored 15 publications.
Papers by this author
worksNovel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations
2012 · Orphanet Journal of Rare Diseases · 49 citations
https://doi.org/10.1186/1750-1172-7-7
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations
2016 · Orphanet Journal of Rare Diseases · 29 citations
https://doi.org/10.1186/s13023-016-0514-z
Additional file 1: of Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations
2016 · Figshare · 0 citations
https://doi.org/10.6084/m9.figshare.c.3629090_d1.v1
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