Associated Papers
Case Report: Newly discovered ELN gene mutation in congenital heart disease: case analysis and review.
Cheng P et al.
Frontiers in Pediatrics, 2026
41695747 (PubMed )
Supplement: Supplementaryfile1.xlsx › Table1
Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections.
Ponińska JK et al.
Journal of Translational Medicine, 2022
35078481 (PubMed )
Supplement: 12967_2022_3251_MOESM1_ESM.pdf
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.
Grelet M et al.
Orphanet Journal of Rare Diseases, 2019
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