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In this issue: Genes involved in SDS, autosomal recessive inheritance, and what is a mutation vs. a VUS? Welcome to our weekly updates on...

In this issue: Ribosomes in Mitochondria. Therapies and Cures start with an Accurate Diagnosis - what are we doing about increasing the...

In this issue: What are biomarkers and why are they important? Rare Diseases: Maintaining Momentum (From The Lancet). Introduction of...