Associated Papers
Automatized detection of uniparental disomies in a large cohort.
Moch J et al.
Human Genetics, 2024
39012485 (PubMed )
Supplement: 439_2024_2687_MOESM2_ESM.xlsx › UPD_findings_Overview
Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis.
Moch J et al.
Frontiers in Genetics, 2023
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