Veronika Vaclavik

2PUBLICATIONS
150CO-AUTHORS
Neurology and neuromuscular diseasesOptical technology
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Publications (2)

|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Jan 11, 2024
Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology.

Veronika Vaclavik, Aurelie Navarro, Alain Jacot-Guillarmod

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