Case report: Tissue positivity for SARS-CoV-2 in a preterm born infant death of thrombosis: possible intrauterine transmission

Counteracting the Common Shwachman-Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing

Monitoring Somatic Genetic Alterations in Circulating Cell-Free DNA/RNA of Patients with "Oncogene-Addicted" Advanced Lung Adenocarcinoma: A Real-World Clinical Study

Cis-segregation of c.1171c>t stop codon (p.r391*) in serpinc1 gene and c.1691g>a transition (p.r506q) in f5 gene and selected gwas multilocus approach in inherited thrombophilia

Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function

OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies

Deep molecular mechanisms of F8 exon 19 variants and translational approaches in Hemophilia A

Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency

Pathological and Molecular Features of Mucinous Colorectal Adenocarcinoma

Exon-Specific U1snRNA-Mediated Rescue of Splicing and Missense Changes in Hemophilia A

An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A

Second primary malignancies in patients with non-melanoma skin cancer: Results from a cancer registry–based study in Emilia Romagna, north-east Italy

Disease-causing variants of the conserved+2T of 5 ' splice sites can be rescued by engineered U1snRNAs

Antibody response to polyomavirus primary infection: high seroprevalence of Merkel cell polyomavirus and lymphoid tissue involvement

The role of immunohistochemistry in the identification of BRAF V600E mutated colorectal cancer

Pathologic and molecular features of BRAF mutated colorectal adenocarcinomas

MBL2 polymorphisms in women with atypical squamous cells of undetermined significance

Beta defensin-1 gene polymorphisms and susceptibility to Atypical Squamous Cells of Undetermined Significance lesions in Italian gynecological patients

Analysis of BRAF Gene Mutation and MLH1 Promoter Methylation in MSI-H Colorectal Carcinomas with Loss of MLH1 Protein Expression

Assessment of MLH1 promoter methylation and BRAF gene mutation in colorectal carcinomas with microsatellite instability