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Article

The diagnostic utility of exome sequencing in Joubert syndrome and related disorders

4 Oct 2012

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 23034536
DOI: 10.1038/jhg.2012.117

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Related research

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The diagnostic utility of exome sequencing in Joubert syndrome and related disordersPMID 23034536Read ↗

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Exome sequencing can improve diagnosis and alter patient management.Semantic proximity Read ↗

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Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneitySemantic proximity Read ↗

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Clinical exome sequencing in neurogenetic and neuropsychiatric disorders.Semantic proximity Read ↗

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.Semantic proximity Read ↗

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