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You searched for: Author/Creator Veltman, Joris A.

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1. A Post‐Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases. Issue 12 (18th October 2013)

4. Detection of Clinically Relevant Copy Number Variants with Whole‐Exome Sequencing. Issue 10 (30th August 2013)

6. Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities. Issue 4 (1st March 2014)

8. Germline De Novo Mutation Clusters Arise During Oocyte Aging in Genomic Regions With High Double-Strand-Break Incidence. Issue 9 (September 2018)