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- 2023
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Mark
Co-occurrence of CLCN2-related leukoencephalopathy and SPG56
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- Contribution to journal › Article
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Mark
Identification of COL1A1/2 Mutations and Fusions With Noncoding RNA Genes in Bizarre Parosteal Osteochondromatous Proliferation (Nora Lesion)
2023) In Modern Pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 36(2).(
- Contribution to journal › Article
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Mark
Characterization of the Mitochondrial Genetic Landscape in Abdominal Aortic Aneurysm
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- Contribution to journal › Article
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HNF1B variant without hyperglycaemia as a cause of isolated profound hypomagnesaemia
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- Contribution to journal › Article
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Proteogenomic mapping sets stage for precision medicine
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- Contribution to journal › Debate/Note/Editorial
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Epigenome-wide association study of serum folate in maternal peripheral blood leukocytes
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- Contribution to journal › Article
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Manganese efflux transporter SLC30A10 missense polymorphism T95I associated with liver injury retains manganese efflux activity
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- Contribution to journal › Article
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A cloud-based resource for genome coordinate-based exploration and large-scale analysis of chromosome aberrations and gene fusions in cancer
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- Contribution to journal › Article
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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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Gestational weight gain in pregnant women with obesity is associated with cord blood DNA methylation, which partially mediates offspring anthropometrics
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- Contribution to journal › Letter