Showing 1 - 2 results of 2 for search 'Noemi Vidal-Folch', query time: 0.02s Refine Results
  1. 1
    P444: SMA carrier screening utilizing SNP array technology and confirmatory ddPCR reveals an isolated SMN1 exon 8 deletion

    P444: SMA carrier screening utilizing SNP array technology and confirmatory ddPCR reveals an isolated SMN1 exon 8 deletion by Noemi Vidal-Folch, Jennifer Winters, Devin Oglesbee, Linda Hasadsri, Sara Cook

    Published 2023-01-01
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  2. 2
    SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts

    SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts by Sara L. Cook, Christian Stout, Lindsey Kirkeby, Noemi Vidal-Folch, Devin Oglesbee, Linda Hasadsri, Duygu Selcen, Margherita Milone, Daniel Anderson, Nathan P. Staff

    Published 2024-07-01
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