Associated Papers
Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies.
Vintschger E et al.
European Journal of Human Genetics : Ejhg, 2023
36550190 (PubMed )
Supplement: 41431_2022_1267_MOESM2_ESM.xlsx › VUS_2018_2020
Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy.
Rimoldi M et al.
Frontiers in Neurology, 2023
Differential diagnosis of vacuolar myopathies in the NGS era.
Mair D et al.
Brain Pathology (zurich, Switzerland), 2020
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