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768 results on '"van Ommen, Gert-Jan"'

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1. A high-quality human reference panel reveals the complexity and distribution of genomic structural variants.

3. Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels.

13. A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

18. Detection of Truncated Dystrophin in Fetal DMD Myotubes

19. Roux-en-Y Gastric Bypass Surgery, but Not Calorie Restriction, Reduces Plasma Branched-Chain Amino Acids in Obese Women Independent of Weight Loss or the Presence of Type 2 Diabetes

21. Local dystrophin restoration with antisense oligonucleotide PRO051

25. Antisense-induced multiexon skipping for duchenne muscular dystrophy makes more sense

26. Transcriptome and genome sequencing uncovers functional variation in humans

35. LPAR1 and ITGA4 regulate peripheral blood monocyte counts www.hgvs.org

36. Systemic Administration of PRO051 in Duchenneʼs Muscular Dystrophy

38. Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

40. Hundreds of variants clustered in genomic loci and biological pathways affect human height

49. Biobanking for Europe

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