prof. dr. Frauke Coppieters
- Work address
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C. Heymanslaan 10, ingang 34 (MRB)
9000 Gent - Frauke.Coppieters@UGent.be
- ORCID iD
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0000-0001-7224-0992
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Joubert syndrome
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Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C > A p.(Pro188Thr) in the C1QTNF5 gene
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- Conference Paper
- C3
- open access
Cell death stage dictates the immunogenicity of ferroptotic cancer cells
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Selection and validation of reference genes for accurate RT-qPCR gene expression normalization in cacao beans during fermentation
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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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- Journal Article
- A1
- open access
Vaccination with early ferroptotic cancer cells induces efficient antitumor immunity
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Exome-based panel testing as an efficient method to diagnose the highly heterogeneous ocular disorder spectrum Microphthalmia, Anophthalmia, Coloboma and Anterior Segment Dysgenesis (MAC-ASD)
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- Journal Article
- A1
- open access
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility
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- Journal Article
- A1
- open access
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy
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Analysis of whole exome sequencing data with a panel of genes associated with intellectual disability and epilepsy in a diagnostic lab