Publication & Citation Trends
Publications
0 total
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations OA
Cited by 23
Semantic Scholar
Clinical utility gene card for: poikiloderma with neutropenia OA
Cited by 9
Semantic Scholar
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations OA
Cited by 50
Semantic Scholar
Poikiloderma with neutropenia: Delineation of novel mutations and geographic clusters
Cited by 1
Semantic Scholar
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene. OA
Cited by 137
Semantic Scholar
Comparison of conservative DNA extraction methods for two Galliformes: grey partridge (Perdix perdix italica, Hartert 1917) and red-legged partridge (Alectoris rufa, Linnaeus 1758)
Cited by 8
Semantic Scholar
Clericuzio‐type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: Delineation of the phenotype
Cited by 38
Semantic Scholar
Rothmund-Thomson syndrome OA
Cited by 33
Semantic Scholar
Research Topics
RNA Research and Splicing
(6)
RNA modifications and cancer
(5)
DNA Repair Mechanisms
(4)
Cell Adhesion Molecules Research
(4)
Viral-associated cancers and disorders
(3)
Affiliations
University of Milan
Institute for Medical Research