Associated Papers
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L et al.
Med (new York, N.y.), 2025
Ultra-rare genetic variation in relapsing polychondritis: a whole-exome sequencing study.
Luo Y et al.
Annals of the Rheumatic Diseases, 2024
Ultra-Rare Genetic Variation in Relapsing Polychondritis: A Whole-Exome Sequencing Study.
Luo Y et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Restrictive cardiomyopathy: from genetics and clinical overview to animal modeling.
Chintanaphol M et al.
Reviews in Cardiovascular Medicine, 2022
A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy.
Alhamoudi KM et al.
Scientific Reports, 2021
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