Long-term clinical benefit of mavacamten for hypertrophic cardiomyopathy in a patient with RAF1-associated Noonan syndrome-case report

Source
European Heart Journal: Case Reports - ISSN 2514-2119-10:5 (2026) p.
Author(s)

Genetic yield of targeted diagnostic screening in a large European cohort of 368 thoracic aortic dissection patients

Source
European journal of human genetics - ISSN 1018-4813- (2026) p.
Author(s)

An Adnp frameshift variant disrupts Wnt signalling inducing chromatocytoskeletal defects and autism-related behaviour in male mice

Source
EBioMedicine - ISSN 2352-3964-128 (2026) p.
Author(s)

Polymorphic CGG repeats in gene regulation and disease

Source
The American journal of human genetics - ISSN 1537-6605-113:6 (2026) p. 1131-1158
Author(s)