prof. dr. Bert Callewaert
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- Journal Article
- A1
- open access
Beyond gene-disease validity : capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions
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The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
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The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
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The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
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Structural variants disrupt a critical regulatory region downstream of FOXG1
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.28-28 -
Long-read sequencing enables full characterization of previously unresolved structural variation
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- Conference Paper
- C3
- open access
Long-read sequencing and optical genome mapping enable full characterization of previously unresolved structural variation
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Long-read sequencing and optical genome mapping enable full characterization of previously unresolved structural variation
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Long-read sequencing resolves (complex) cryptic structural variation in patients with syndromic intellectual disability
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- Conference Paper
- C3
- open access
Long-read sequencing resolves (complex) cryptic structural variation in patients with syndromic intellectual disability