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- 2019
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Mark
An isocaloric nordic diet modulates rela and tnfrsf1a gene expression in peripheral blood mononuclear cells in individuals with metabolic syndrome—a sysdiet sub-study
(
- Contribution to journal › Article
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Mark
Recommendations for patient screening in ultra-rare inherited metabolic diseases : What have we learned from Niemann-Pick disease type C?
(
- Contribution to journal › Scientific review
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Mark
Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 “knock-out”
(
- Contribution to journal › Article
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Mark
Associations of autozygosity with a broad range of human phenotypes
(
- Contribution to journal › Article
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Mark
Loss of ZnT8 function protects against diabetes by enhanced insulin secretion
(
- Contribution to journal › Article
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Mark
«Genethics» and public health genomics
2019) p.243-257(
- Chapter in Book/Report/Conference proceeding › Book chapter
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Mark
Trust in genomic data sharing among members of the general public in the UK, USA, Canada and Australia
(
- Contribution to journal › Article
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Mark
SVCurator: A Crowdsourcing app to visualize evidence of structural variants for the human genome
2019)(
- Working paper/Preprint › Preprint in preprint archive
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Mark
Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy
(
- Contribution to journal › Article
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Mark
Aberrant receptor tyrosine kinase signaling in lipofibromatosis : a clinicopathological and molecular genetic study of 20 cases
(
- Contribution to journal › Article