Integration of genetic testing into diagnostic pathways for cardiomyopathies : a clinical consensus statement by the ESC Council on Cardiovascular Genomics
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European heart journal - ISSN 0195-668X- (2024) p.
Interpretation and classification of FBN1 variants associated with Marfan syndrome : consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel
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Genome medicine - ISSN 1756-994X-16:1 (2024) p. 1-14
Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping
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Scientific reports - ISSN 2045-2322-14:1 (2024) p. 1-12
Generation of four distinct isogenic cell lines with truncating variants in I-band or A-band titin
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Stem cell research - ISSN 1873-5061-81 (2024) p. 1-6
From silence to surge : illuminating the stealthy threat of aneurysms and dissections with the aid of cell models and insights into the genetic architecture
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Antwerp, University of Antwerp, Faculty of Medicine and Health Sciences, 2024,269 p.