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Sponsored AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI

Author

X. Ren

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2 papers indexed here

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Review Open access Sep 2026

Pragmatic Phenotype–Electrophysiology–Genomics Integration in Pediatric Congenital Myasthenic Syndromes: Insights From 36 Patients in a Single‐Center Study in China

ABSTRACT Aims To characterize the clinical, electrophysiological, and genetic spectrum of pediatric CMS and evaluate genotype‐informed outcomes using an integrated phenotype–electrophysiology–genomics approach. Methods We retrospectively reviewed 36 pediatric CMS patients evaluated at a single center between 2015 and 2...

Li-Ya Cui, Kai-Yue Ma, Xiao-Na Fu et al. · 0 citations
Open access Aug 2026

A Genotype–Phenotype Analysis of Four Chinese Children Carrying Distinct Pathogenic Variants in the CTCF Gene

This study expands the spectrum of pathogenic CTCF variants in the Chinese population and underscores the marked phenotypic heterogeneity of CTCF-related disorders, ranging from benign developmental outcomes with complete catch-up to severe neonatal multisystem involvement.

Juan Du, Muhan Li, Ai-Min Liang et al. · 0 citations

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