Associated Papers
Molecular testing in newborn screening: VUS burden among true positives and secondary reproductive limitations via expanded carrier screening panels.
Cook S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Case report: Two siblings with very late onset of holocarboxylase synthase deficiency and a mini-review.
Gaschignard M et al.
Frontiers in Genetics, 2024
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