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ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder.
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency.
Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the ne…
ECHS1 suppresses renal cell carcinoma development through inhibiting mTOR signaling activation.
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Global Learning: an Orbis Virtual-platform Evaluation Study
Increasing Vision Center Service Utilization
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