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Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study
Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1
