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Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

Author

Zhuo Li

h-index 13 View on Semantic Scholar

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Aug 2026

Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals.

BACKGROUND Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused primarily by biallelic SMN1 loss-of-function mutations, most commonly homozygous deletions of exon 7. While large-scale carrier screening is critical for prevention, comprehensive population-level data remain limited in mai...

Qingxin Shi, Jing Liu, Jianyan Pan et al. · 0 citations
Open access Jul 2026

The genetic landscape of hypospadias: clinical insights into inherited and de novo risk factors.

A large-scale trio approach substantially expands the genetic landscape of hypospadias, demonstrates the critical value of trio-based sequencing for improving diagnostic yield, and decisively implicates ciliary genes in its pathogenesis.

Yan-Qin You, Yingliu Luo, Hong-Hui Zhou et al. · 0 citations

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