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- 2019
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A comprehensive assessment of demographic, environmental, and host genetic associations with gut microbiome diversity in healthy individuals
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- Contribution to journal › Article
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Association of Birth Weight With Type 2 Diabetes and Glycemic Traits: A Mendelian Randomization Study
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- Contribution to journal › Article
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Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome
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- Contribution to journal › Article
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Mark
Hematopoietic stem cell-targeted neonatal gene therapy with a clinically applicable lentiviral vector corrects osteopetrosis in oc/oc Mice
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- Contribution to journal › Article
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Mark
Distinct pathways associated with chromosomal aberration frequency in a cohort exposed to genotoxic compounds compared to general population
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- Contribution to journal › Article
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Nomenclature of Genetically Determined Myoclonus Syndromes : Recommendations of the International Parkinson and Movement Disorder Society Task Force
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- Contribution to journal › Scientific review
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MPRAscore : robust and non-parametric analysis of massively parallel reporter assays
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- Contribution to journal › Article
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Identification of human D lactate dehydrogenase deficiency
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- Contribution to journal › Article
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The molecular landscape of ETMR at diagnosis and relapse
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- Contribution to journal › Article
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Epigenome-wide association study of incident type 2 diabetes in a British population : EPIC-Norfolk study
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- Contribution to journal › Article