Overall, we have identified 27 patients with suspected pathogenic variants in dystroglycanopathy-associated genes. We present evidence for the genetic and ...
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04.04.2023 · We discuss here the transcriptomic, metabolic, and functional heterogeneity of astrocytes and microglia and highlight their interaction in ...
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31.08.2015 · In summary, our data suggests that the concomitant use of MSCs + LLLT may be a promising therapeutic approach for lung inflammatory diseases as ...
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27.09.2013 · This study demonstrates that exosomes released from retinal tissue cells have different angiogenic effects, with exosomes from RACs containing ...
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Methods: We design an evaluation approach for web search engines for rare disease diagnosis which includes 56 real life diagnostic cases, performance measures, ...
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Molecular mechanisms of oncogenic mutations in tumors from patients ...
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The RB1 gene from 12 human retinoblastoma tumors has been analyzed exon-by-exon with the single-strand conformation polymorphism technique.
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Ectopic induction of optogenetic actuators, such as channelrhodopsin, is a promising approach to restoring vision in the degenerating retina.
29.06.2023 · Case reports may offer information about heterogeneous phenotypes which often further complicate rare disease diagnosis. The rare disease search ...
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