- Work address
-
Stalen medische genetica C. Heymanslaan 10
9000 Gent - Marieke.DeBruyne@UGent.be
- ORCID iD
-
0000-0001-6636-5537
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Missing heritability in Bloom syndrome: First report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene
(2021) Research Day. -
Integration of genomics and transcriptomics to identify DNAdamage defects in PID patients with a cancer predisposition
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Missing heritability in Bloom syndrome : first report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene
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Isolated maculopathy and moderate rod-cone dystrophy represent the milder end of the RDH12-related retinal dystrophy spectrum
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Missing heritability in Bloom syndrome: First report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene
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- Journal Article
- A1
- open access
Case report : convalescent plasma, a targeted therapy for patients with CVID and severe COVID-19
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Unraveling complex structural variants of CEP78 leading to cone rod dystrophy and hearing loss using long read sequencing
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Unraveling complex structural variants of CEP78 leading to cone rod dystrophy and hearing loss using long read sequencing
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Missing heritability in Bloom syndrome : first report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene
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Unraveling complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss using long-read sequencing