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1. A pilot study of exome sequencing in a diverse New Zealand cohort with undiagnosed disorders and cancer. Issue 4 (2nd October 2018)

5. Constraint and conservation of paired‐type homeodomains predicts the clinical outcome of missense variants of uncertain significance. Issue 8 (2nd June 2020)

6. Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures. Issue 12 (24th September 2014)

9. STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Issue 12 (11th October 2018)