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whole-exome sequencing
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Dunnen, J.T. den
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Laros, J.F.J.
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Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry
Low mutational burden of extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue in patients with primary Sjogren's syndrome
Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data
A novel germline variant in the DOT1L gene co-segregating in a Dutch family with a history of melanoma
Whole-Exome Sequencing Identifies Pathogenic Variants in TJP1 Gene Associated With Arrhythmogenic Cardiomyopathy
Successful Growth Hormone Therapy in Cornelia de Lange Syndrome
Critical points for an accurate human genome analysis