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John Wiley & Sons Inc

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Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics

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Patients Carrying 9q31.1-q32 Deletion Share Common Features with Cornelia de Lange Syndrome

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Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

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mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome

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International Journal of Molecular Sciences, Vol. 18, Iss. 3, 2017-02 ,pp. : 481-481

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