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The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects
Download from www.researchgate.netMarfan syndrome and related heritable thoracic aortic aneurysms and dissections
Download from doi.orgAbsence of Cardiovascular Manifestations in a Haploinsufficient Tgfbr1 Mouse Model
Download from dx.doi.orgIn-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome
Download from www.ncbi.nlm.nih.govComprehensive Clinical and Molecular Analysis of 12 Families With Type 1 Recessive Cutis Laxa
Download from www.ncbi.nlm.nih.govNovel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD
Download from www.ncbi.nlm.nih.govThe new Ghent criteria for Marfan syndrome: what do they change ?
Download from hal.archives-ouvertes.frThe revised Ghent nosology for the Marfan syndrome.
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