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- Journal Article
- A1
- open access
Nanopore sequencing of a forensic STR multiplex reveals loci suitable for single-contributor STR profiling
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Update on the genetics of differences of sex development (DSD)
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- Journal Article
- A1
- open access
Disorders of sex development : insights from targeted gene sequencing of a large international patient cohort
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Massively parallel sequencing technologies in neuroblastoma research
(2015) -
- PhD Thesis
- open access
Low-frequency variant detection in viral populations using massively parallel sequencing data
(2014) -
Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis