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MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.Susceptibility to chronic mucus hypersecretion, a genome wide association study.Genetic Susceptibility and Predictors of Paradoxical Reactions in Buruli UlcerPooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2The emerging landscape of dynamic DNA methylation in early childhood.Functional genomics identifies type I interferon pathway as central for host defense against Candida albicansImproving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants.A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD).Genome-wide association study on the FEV1/FVC ratio in never-smokers identifies HHIP and FAM13A.GAVIN: Gene-Aware Variant INterpretation for medical sequencing.Correction: Susceptibility to chronic mucus hypersecretion, a genome wide association study.Correlation of genetic risk and messenger RNA expression in a Th17/IL23 pathway analysis in inflammatory bowel disease.OR7-002 – Pyrin 577 mutations in dominant autoinflammation.Participation in interdisciplinary meetings on genetic diagnostics (NGS).Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.COPD GWAS variant at 19q13.2 in relation with DNA methylation and gene expression.Rapid Targeted Genomics in Critically Ill Newborns.The Well-Known Gene HHIP and Novel Gene MECR Are Implicated in Small Airway Obstruction.Understanding the role of the chromosome 15q25.1 in COPD through epigenetics and transcriptomics.Occupational exposure to pesticides is associated with differential DNA methylation.Long-term Air Pollution Exposure, Genome-wide DNA Methylation and Lung Function in the LifeLines Cohort Study.DNA methylation in childhood asthma: an epigenome-wide meta-analysis.A Genome-Wide Linkage Study for Chronic Obstructive Pulmonary Disease in a Dutch Genetic Isolate Identifies Novel Rare Candidate Variants.GAVIN - Gene-Aware Variant INterpretation for medical sequencingA next-generation sequencing method for gene doping detection that distinguishes low levels of plasmid DNA against a background of genomic DNA
P50
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P50
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researcher
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հետազոտող
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name
Cleo C van Diemen
@ast
Cleo C van Diemen
@en
Cleo C van Diemen
@es
Cleo C van Diemen
@nl
Cleo C van Diemen
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type
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Cleo C van Diemen
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Cleo C van Diemen
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Cleo C van Diemen
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Cleo C van Diemen
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Cleo C van Diemen
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CC van Diemen
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Cleo C van Diemen
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Cleo C van Diemen
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Cleo C van Diemen
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Cleo C van Diemen
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Cleo C van Diemen
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P106
P31
P496
0000-0001-9283-2207