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Publicaties

SEPT–GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance

Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients

What if we would turn a diagnostic multi-cancer gene panel into a screening tool?

In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe

CoNVaDING: Single Exon Variation Detection in Targeted NGS Data

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

High Frequency of RPL22 Mutations in Microsatellite-Unstable Colorectal and Endometrial Tumors

New Target Genes in Endometrial Tumors Show a Role for the Estrogen-Receptor Pathway in Microsatellite-Unstable Cancers

TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

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