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4. Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients. (8th January 2015)

6. Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non‐syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma. (6th April 2013)

7. Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. Issue 11 (26th August 2021)

9. Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort. (12th June 2020)