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- Journal Article
- A1
- open access
Exploring the mutational landscape of isolated congenital heart defects : an exome sequencing study using cardiac DNA
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- Journal Article
- A1
- open access
Spontaneous right ventricular pseudoaneurysms and increased arrhythmogenicity in a mouse model of Marfan syndrome
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Knock-out of atp6v1e1b in zebrafish faithfully recapitulates the human cutis laxa syndrome and highlights the endosomal pathway in disease pathogenesis.
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Knock-out of atp6v1e1b in zebrafish faithfully recapitulates the human cutis laxa syndrome and highlights the endosomal pathway in disease pathogenesis
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In-depth characterization of the ultrastructural variability of the vertebral column in a severe, medium and mildly affected Osteogenesis Imperfecta zebrafish model