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Publications by Johan T den Dunnen

HGVS Nomenclature in Practice: An Example From the United Kingdom National External Quality Assessment Scheme

Human Mutation
Genetics
2016English

The UCL Low-Density Lipoprotein Receptor Gene Variant Database: Pathogenicity Update

Journal of Medical Genetics
Genetics
2016English

Characterization of Novel SLC6A8 Variants With the Use of Splice-Site Analysis Tools and Implementation of a Newly Developed LOVD Database

European Journal of Human Genetics
Genetics
2010English

Increased Sensitivity of Next Generation Sequencing-Based Expression Profiling After Globin Reduction in Human Blood RNA

BMC Genomics
BiotechnologyGenetics
2012English

The Genomic Landscape of the Verrucomicrobial Methanotroph Methylacidiphilum Fumariolicum SolV

BMC Genomics
BiotechnologyGenetics
2014English

Dual Exon Skipping in Myostatin and Dystrophin for Duchenne Muscular Dystrophy

BMC Medical Genomics
Genetics
2011English

Large Scale Single Nucleotide Polymorphism Discovery in Unsequenced Genomes Using Second Generation High Throughput Sequencing Technology: Applied to Turkey

BMC Genomics
BiotechnologyGenetics
2009English

Can Subtle Changes in Gene Expression Be Consistently Detected With Different Microarray Platforms?

BMC Genomics
BiotechnologyGenetics
2008English

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