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A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
journal article
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases
2020-09
