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Hilary Sawyer

Southmead Hospital

3

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Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study

2019 Annals of Human Genetics
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196 Paediatric Cardiomyopathy (PC); The Validation, Implementation and Utility of a 71 Gene NGS Diagnostic Panel to Detect Variants in Rare Cardiac Genes

2015 Heart
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A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase ( GALT ) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha ( IL11RA ) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities

2013
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