prof. dr. Paul Coucke
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Three arginine to cysteine substitutions 4 in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood
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Consortium for osteogeneslis imperfecta mutations in the helical domain of type I collagen: Regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
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Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa
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Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity
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COL2A1-related skeletal dysplasias with predominant metaphyseal involvement
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Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis
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Mutation analysis in the FBN1 gene in patients with Marfan Syndrome
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Mutation analysis of the FBN1 gene in patients with Marfan syndrome
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Aneurysm syndromes caused by mutations in the TGF-beta receptor
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Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome