Associated Papers
Early-onset multivalvular disease caused by a missense variant in lamin A/C.
Janin A et al.
Hgg Advances, 2025
40783787 (PubMed )
Supplement: mmc1.pdf
The Potential of Intertwining Gene Diagnostics and Surgery for Mitral Valve Prolapse.
Iske J et al.
Journal of Clinical Medicine, 2023
Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency: A single center experience from over 30 years.
Hietamäki J et al.
Eclinicalmedicine, 2022
Genetic background of mitral valve prolapse.
Guicciardi NA et al.
Reviews in Cardiovascular Medicine, 2022
Deleterious variants in DCHS1 are prevalent in sporadic cases of mitral valve prolapse.
Clemenceau A et al.
Molecular Genetics & Genomic Medicine, 2018
Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.
Qiu YL et al.
Hepatology (baltimore, Md.), 2017
28027573 (PubMed )
Supplement: HEP-65-1655-s001.pdf
Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.
Verduin M et al.
Neuro-oncology Advances, 0
38130902 (PubMed )
Supplement: vdad152_suppl_supplementary_materials_5.xlsx › SNVs
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