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List of works by Nienke Wieskamp

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

scientific article published on 18 October 2013

A de novo paradigm for mental retardation

scientific article published on 14 November 2010

Accurate distinction of pathogenic from benign CNVs in mental retardation

scientific article

Cantú syndrome is caused by mutations in ABCC9.

scientific article

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

scientific article

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder

scientific article published on 11 December 2014

Massively parallel sequencing of ataxia genes after array-based enrichment

scientific article

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy

scientific article

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

scientific article

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