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- 2023
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Mark
Cross-Ancestry DNA Methylation Marks of Insulin Resistance in Pregnancy : An Integrative Epigenome Wide Association Study
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- Contribution to journal › Article
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Co-occurrence of CLCN2-related leukoencephalopathy and SPG56
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- Contribution to journal › Article
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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
HNF1B variant without hyperglycaemia as a cause of isolated profound hypomagnesaemia
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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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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
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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
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[18F]RO948 tau positron emission tomography in genetic and sporadic frontotemporal dementia syndromes
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- Contribution to journal › Article
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Giemsa-negative chromosome bands preferentially recombine in cancer-associated translocations and gene fusions
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- Contribution to journal › Article
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Best Practices to Promote Data Utility and Reuse by the Non-Traditional Model Organism Community
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- Contribution to journal › Article