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Your search keyword '"Bruhn, Helene"' showing total 5 results

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5 results on '"Bruhn, Helene"'

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1. Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

2. Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

3. Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism

4. Erratum: Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

5. Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

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