Associated Papers
A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.
Héron D et al.
Brain : a Journal of Neurology, 2025
40905141 (PubMed )
Supplement: awaf311_supplementary_data.zip › brain-2024-03287-File005.xlsx › Feuil1
Genomic and transcriptomic signatures of sequential carcinogenesis from papillary neoplasm to biliary tract cancer.
Chung T et al.
Journal of Hepatology, 2025
Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 Gene in BCNS.
Pál M et al.
Current Issues in Molecular Biology, 2023
Molecular alterations in basal cell carcinoma subtypes.
Di Nardo L et al.
Scientific Reports, 2021
34168209 (PubMed )
Supplement: 41598_2021_92592_MOESM3_ESM.xlsx › Foglio1
DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain.
Marsh A et al.
Human Mutation, 2005
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