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Publications by authors named "Mandy Nesbitt"

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Late diagnosis of hypophosphatasia in a case with Unverricht-Lundborg disease.
Soha Zouwail, Nathan Longworth, Joseph Grey, Mandy Nesbitt, Sanjay Sisodiya

Ann Clin Biochem· July 2019


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The genetic and biochemical basis of trimethylaminuria in an Irish cohort.
Samantha Doyle, James J O'Byrne, Mandy Nesbitt, Daniel N Murphy, Zaza Abidin

JIMD Rep· May 2019


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Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene.
Natasha S Stembridge, Anthony M Vandersteen, Neeti Ghali, Philip Sawle, Mandy Nesbitt

Am J Med Genet A· August 2015


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