Search Results - "Göynük, Büsra"

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    A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI by Broeders, Mike, Smits, Kasper, Goynuk, Busra, Oussoren, Esmee, van den Hout, Hannerieke J.M.P., Bergsma, Atze J., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim

    “…Identification and characterization of disease-associated variants in monogenic disorders is an important aspect of diagnosis, genetic counseling, prediction…”
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    Journal Article