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Publications by R. Jobling

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

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