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Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke
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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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Stickler syndrome: comprehensive clinical and molecular analysis
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Diagnostic criteria for Stickler syndrome based on comprehensive clinical and molecular analysis
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- Book Chapter
- open access
Questioning the pathogenic role of the GLA p.Ala143Thr 'mutation' in Fabry disease: implications for screening studies and ERT
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Characterization of cardiovascular involvement in pseudoxanthoma elasticum families
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Translational impact of VEGFA variants on the prediction and follow-up of ocular complications in pseudoxanthoma elasticum
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Translational impact of VEGFA variants on the prediction and follow-up of ocular complications in pseudoxanthoma elasticum
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Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa : evidence for a spectrum of ectopic calcification disorders?
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Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations