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    Tag: Genetics

    Case reports: Mitochondrial disease uncovered

    April 28, 2025

    ‘Don’t be scared to treat mitochondrial disease’

    April 8, 2025

    A GP guide to newborn bloodspot screening

    April 5, 2025

    Parenthood and the three-gene screen

    November 23, 2024
    Associate Professor Roderick Clifton-Bligh

    ‘My message to all clinicians is that delayed diagnosis can be devastating’: Endocrinologist on rare bone diseases

    November 19, 2024

    Spot Dx — Do these brown rings catch your eye?

    August 2, 2024

    Genomic testing in primary care

    April 13, 2024

    Are you familiar with the newer therapies to treat XLH?

    March 1, 2024

    Patient’s spinal fracture leads to GP diagnosis of rare genetic disorder

    February 19, 2024

    Spot Dx — Is the answer on the tip of his tongue?

    February 9, 2024
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    Spot Dx — Is the answer on the tip of his tongue?

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