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- 2020
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Mark
Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene
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- Contribution to journal › Article
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Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals
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- Contribution to journal › Article
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Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length
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- Contribution to journal › Article
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Mark
Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline
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- Contribution to journal › Article
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Mark
Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis
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- Contribution to journal › Article
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Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism
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- Contribution to journal › Article
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Loss of NF2 defines a genetic subgroup of non-FOS-rearranged osteoblastoma
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- Contribution to journal › Article
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The association between Single Nucleotide Polymorphisms of Klotho Gene and Mortality in Elderly Men : The MrOS Sweden Study
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- Contribution to journal › Article
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Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants
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- Contribution to journal › Article
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Targeting OGG1 arrests cancer cell proliferation by inducing replication stress
2020) In Nucleic Acids Research(
- Contribution to journal › Article