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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

A. Abicht

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Open access Sep 2026

Parallel analysis of repeat expansions: an updated Clin-CATS workflow for nanopore R10 flow cells.

Hereditary ataxias, caused by expansions of short tandem repeats, are difficult to diagnose using traditional PCR and Southern blot methods, which struggle to detect complex repeat expansions and cannot assess repeat interruptions or methylation. We present an updated Clinical Nanopore Cas9-Targeted Sequencing (Clin-CA...

Veronika Scholz, Veronika Schönrock, Hannes Erdmann et al. · 0 citations
Open access Aug 2026

Clinical Variability and Genotype‐Driven Outcomes in CHRND‐Related Congenital Myasthenic Syndrome

Comprehensive genetic testing, longitudinal phenotyping, and genotype‐informed management are essential for optimal diagnosis and care in this rare disorder and underscores the critical role of genotype in determining disease severity.

D. Muhmann, G. Haliloglu, M. A. Grimalt et al. · 0 citations

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