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This testing is added based on the criteria described above in When to test. In people without Down syndrome, studies have demonstrated that red blood cell folate and serum folate testing provide equivalent data

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Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

We further showed that the SetCys peptide does not interfere with NCL even when the thioester component features a sterically demanding amino acid at its C terminus, typically a valine residue (Supplementary Figs

AML patients with IDH1 or IDH2 mutations treated with hypomethylating agents: A case series