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VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum
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Association of variants in the VEGFA (Vascular Endothelial Growth Factor) gene with severe retinopathy in pseudoxanthoma elasticum: implications for molecular screening, counseling and management
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- Journal Article
- A1
- open access
Efficiency of exome sequencing for the molecular diagnosis of Pseudoxanthoma Elasticum
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Novel phenotypes and genes in pseudoxanthoma elasticum-related soft tissue mineralization: results of an integrative approach
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- Journal Article
- A1
- open access
Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum
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- Journal Article
- A1
- open access
Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporter
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- Journal Article
- A2
- open access
Zebrafish models for ectopic mineralization disorders : practical issues from morpholino design to post-injection observations
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Ectopic soft tissue calcification: process, determinants and health impact
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Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum
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- Journal Article
- A2
- open access
The ABCC6 transporter : what lessons can be learnt from other ATP-binding cassette transporters?