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Publications by S. Ferdinandusse

Peroxisomal D-Bifunctional Protein Deficiency: Three Adults Diagnosed by Whole-Exome Sequencing

English

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Carbamoyl Phosphate Synthetase 1 Deficiency Diagnosed by Whole Exome Sequencing

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A Novel HPLC-based Method to Diagnose Peroxisomal D-Bifunctional Protein Enoyl-CoA Hydratase Deficiency

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Clinical Cancer Genomic Profiling by Three-Platform Sequencing of Whole Genome, Whole Exome and Transcriptome

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Whole-Genome Sequencing Is More Powerful Than Whole-Exome Sequencing for Detecting Exome Variants

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Late-Onset Sacsinopathy Diagnosed by Exome Sequencing and Comparative Genomic Hybridization

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