Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.
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Abiusi E, et al. Among authors: costa s.
J Med Genet. 2023 Jul;60(7):697-705. doi: 10.1136/jmg-2022-108873. Epub 2022 Nov 22.
J Med Genet. 2023.
PMID: 36414255