Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 3 publications
Pearls & Oy-sters: Whole-Genome Sequencing in Critically Ill Neurologic Patient Leads to Diagnosis With Treatment Implications.
Journal: Neurology
Published: December 09, 2022
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
Journal: Annals of clinical and translational neurology
Published: August 27, 2018
Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder.
Journal: European journal of medical genetics
Published: February 19, 2017
Showing 1-3 of 3
Last Updated: 09/26/2026