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- Balanced translocation t(3;18)(p13;q22.3) and points mutation in the ZNF407 gene detected in patients with both moderate non-syndromic intellectual disability and autism Journal Articles
- Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements Journal Articles
- Recurrent genomic rearrangements in primary testicular lymphoma. Journal Articles
- WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations Journal Articles