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Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1 and possible implication in the ubiquitination pathway
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Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, implicated in ubiquitination.
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Identification and characterization of RCBTB1 as new disease gene for isolated and syndromic retinal dystrophy
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Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome
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Persisting chloroquine-induced myasthenia