Last Updated: 09/26/2026
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Found 204 publications
Dipeptidyl aminopeptidase-like protein 6 regulates the INa-Ito balance influencing cardiac electrophysiology and arrhythmogenesis.
Journal: Science translational medicine
Published: April 29, 2026
Preclinical modeling of Loeys-Dietz syndrome: insights into mechanisms and therapy.
Journal: Orphanet journal of rare diseases
Published: March 16, 2026
Genetic yield of targeted diagnostic screening in a large European cohort of 368 thoracic aortic dissection patients.
Journal: European journal of human genetics : EJHG
Published: December 10, 2025
Generation of a homozygous and heterozygous iPSC line carrying a variant of uncertain significance in CACNA1C, associated with Brugada syndrome.
Journal: Stem cell research
Published: October 13, 2025
Six at Sixty. The revised Ghent nosology for Marfan syndrome turns 15 - what we have gained, what we have missed.
Journal: Journal of medical genetics
Published: September 23, 2025
Spontaneous spinal CSF leaks: a rare variant exome sequencing study and functional analysis.
Journal: The Lancet. Neurology
Published: September 19, 2025
Loeys-Dietz syndrome: 2026 updated care management primer.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 01, 2025
An NGS-based approach for precise and footprint-free CRISPR-based gene editing in human stem cells.
Journal: Methods (San Diego, Calif.)
Published: March 19, 2025
Minimum Core Data Elements for Evaluation of Thoracic Aortic Disease.
Journal: JACC. Advances
Published: February 12, 2025
"Phenotypic and genotypic insights, counseling strategies, and follow-up in 24 individuals with filamin a deficiency: findings from a retrospective cohort study".
Journal: Acta neurologica Belgica
Published: February 03, 2025
Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.
Journal: Journal of medical genetics
Published: August 22, 2024
Last Updated: 09/26/2026