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BMC Medical Genomics|June 6, 2026
Characterizing SMN1 hybrid and deletion alleles using large-scale SNP array-based SMA carrier screeningNoemi Vidal-Folch, Christian Stout, Jennifer Winters, et al.Frontiers in Genetics|August 14, 2024
SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblastsSara L Cook, Christian Stout, Lindsey Kirkeby, et al.Neuromuscular Disorders : NMD|December 25, 2025
Clinically discordant siblings with spinal muscular atrophy: insights from their patient-specific iPSC-derived motor neurons and literature reviewSara L Cook, Tyller Mensa, Henry Noma, et al.Pageof 1