Associated Papers
Diagnostic and therapeutic challenges of glioblastoma as an initial malignancy of constitutional mismatch repair deficiency (CMMRD): two case reports and a literature review.
Onishi S et al.
Bmc Medical Genomics, 2023
36647049 (PubMed )
Supplement: 12920_2022_1403_MOESM1_ESM.xlsx › Sheet1
Neurofibromatosis type 1-related pseudarthrosis: Beyond the pseudarthrosis site.
Brekelmans C et al.
Human Mutation, 2019
Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation.
Frayling IM et al.
Journal of Medical Genetics, 2019
The genomic landscape of hypodiploid acute lymphoblastic leukemia.
Holmfeldt L et al.
Nature Genetics, 2013
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