Leiden University Scholarly Publications

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Combining congenital heart surgical and interventional cardiology outcome data in a single database
Combining congenital heart surgical and interventional cardiology outcome data in a single database
Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains
Properties and units in the clinical laboratory sciences part XXIV. Properties and units in clinical molecular genetics (IUPAC Technical Report)
HGVS Recommendations for the Description of Sequence Variants: 2016 Update
HGVS Nomenclature in Practice: An Example from the United Kingdom National External Quality Assessment Scheme
A germline chromothripsis event stably segregating in 11 individuals through three generations
Describing Structural Changes by Extending HGVS Sequence Variation Nomenclature