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The pseudoxanthoma elasticum zebrafish model contributes to novel pathophysiological insights and therapeutic strategies in ectopic mineralization
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- Conference Paper
- C3
- open access
An in vitro enzymatic assay to elucidate the VUS problem in RPE65, a target for retinal gene therapy
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- Conference Paper
- C3
- open access
Long-read sequencing resolves (complex) cryptic structural variation in patients with syndromic intellectual disability
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The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
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- Conference Paper
- C3
- open access
Whole genome sequencing sheds light on the dark matter of the genome in patients with inherited retinal diseases
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An optimized workflow for CRISPR/Cas9-mediated generation of indels and large deletions in induced pluripotent stem cells and neural stem cells