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- 2023
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Mark
Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activity
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- Contribution to journal › Article
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Mark
Circulating triglycerides are associated with human adipose tissue DNA methylation of genes linked to metabolic disease
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- Contribution to journal › Article
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Ethnic, gender and other sociodemographic biases in genome-wide association studies for the most burdensome non-communicable diseases : 2005-2022
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- Contribution to journal › Article
- 2022
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Mark
Genomic editing of metformin efficacy-associated genetic variants in SLC47A1 does not alter SLC47A1 expression
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- Contribution to journal › Article
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Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes
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- Contribution to journal › Article
- 2020
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Demonstration of brain region-specific neuronal vulnerability in human iPSC-based model of familial Parkinson's disease
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- Contribution to journal › Article
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Prostate cancer risk SNP rs10993994 is a trans-eQTL for SNHG11 mediated through MSMB
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- Contribution to journal › Article
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Effect of rare coding variants in the CFI gene on Factor I expression levels
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- Contribution to journal › Article
- 2019
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Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis
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- Contribution to journal › Article
- 2018
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Mark
Genome-wide meta-analysis identifies novel determinants of circulating serum progranulin
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- Contribution to journal › Article
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Consortium-based genome-wide meta-analysis for childhood dental caries traits
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- Contribution to journal › Article
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Functional analyses of rare genetic variants in complement component C9 identified in patients with age-related macular degeneration
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- Contribution to journal › Article
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Mark
A genome-wide association study of IgM antibody against phosphorylcholine : Shared genetics and phenotypic relationship to chronic lymphocytic leukemia
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- Contribution to journal › Article
- 2017
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Mark
Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation
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- Contribution to journal › Article
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Mark
Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease
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- Contribution to journal › Article
- 2016
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Mark
Analysis with the exome array identifies multiple new independent variants in lipid loci
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- Contribution to journal › Article
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Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility
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- Contribution to journal › Article
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Mark
Genome wide association study identifies two loci associated with cadmium in erythrocytes among never-smokers
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- Contribution to journal › Article
- 2015
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Mark
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
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- Contribution to journal › Article
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Mark
Association of exome sequences with plasma C-reactive protein levels in >9000 participants.
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- Contribution to journal › Article