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Author

T. Neuhann

2 papers indexed here

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Case report Open access Oct 2026

Mosaicism for Cohen–Gibson Syndrome in a Female Individual With Overgrowth and Neurodevelopmental Delay

ABSTRACT Background The Embryonic Ectoderm Development (EED) gene encodes a core component of the Polycomb Repressive Complex 2 (PRC2), which regulates chromatin structure and plays a key role in embryonic development and cell differentiation. Pathogenic variants in EED are associated with overgrowth–intellectual disab...

Fei Song, Manuel Michels, Beate Betz et al. · 0 citations
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

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