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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

Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

PMS2 Involvement in Patients Suspected of Lynch Syndrome

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