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Benchmarking of long read structural variant callers using Oxford Nanopore data
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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
The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
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- Conference Paper
- C3
- open access
Defects in the first hybrid domain of fibrillin-1 affect vascular wall homeostasis in the thoracic aorta
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- Conference Paper
- C3
- open access
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 optimized workflow for CRISPR/Cas9-mediated generation of indels and large deletions in induced pluripotent stem cells and neural stem cells