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- 2022
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Mark
Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model
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- Contribution to journal › Article
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Four Swedish cases of CSF1R-related leukoencephalopathy : Visualization of clinical phenotypes
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- Contribution to journal › Article
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Towards a treatment for mitochondrial disease : current compounds in clinical development
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- Contribution to journal › Scientific review
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The Lund Molecular Taxonomy Applied to Non-Muscle-Invasive Urothelial Carcinoma
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- Contribution to journal › Article
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Mark
Population-scale analysis of common and rare genetic variation associated with hearing loss in adults
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- Contribution to journal › Article
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Mark
Structure and functional mapping of the KRAB-KAP1 repressor complex
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- Contribution to journal › Article
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Mark
Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease
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- Contribution to journal › Article
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Mark
DNA methylation profiling improves routine diagnosis of paediatric central nervous system tumours : A prospective population-based study
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- Contribution to journal › Article
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When a Synonymous Variant Is Nonsynonymous
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- Contribution to journal › Article
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Genome-wide meta-analysis and omics integration identifies novel genes associated with diabetic kidney disease
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- Contribution to journal › Article