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Sabrina Gebert2018-01-06 15:09:382019-12-23 10:43:10Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3.
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Sabrina Gebert2017-12-19 15:14:262019-12-23 10:46:40Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.
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Sabrina Gebert2017-11-30 15:32:412019-02-15 14:40:54Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene.
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Sabrina Gebert2017-11-09 15:31:462019-12-23 10:57:53A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3’UTR-encoded, aggregation-inducing motif.
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Sarah Hänsch2017-11-07 10:08:302019-12-23 10:55:27Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
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