51 results on '"van Ommen, Gert Jan B."'
Search Results
2. IL7R gene expression network associates with human healthy ageing
3. Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels
4. BBMRI-ERIC as a resource for pharmaceutical and life science industries: the development of biobank-based Expert Centres
5. Selection and characterization of llama single domain antibodies against N-terminal huntingtin
6. Downregulation of the acetyl-CoA metabolic network in adipose tissue of obese diabetic individuals and recovery after weight loss
7. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
8. Exon skipping for DMD
9. Dual exon skipping in myostatin and dystrophin for Duchenne muscular dystrophy
10. Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients
11. Progress in therapeutic antisense applications for neuromuscular disorders
12. Integrated analysis of DNA copy number and gene expression microarray data using gene sets
13. Cost-effective HRMA pre-sequence typing of clone libraries; application to phage display selection
14. Assessment of the feasibility of exon 45–55 multiexon skipping for duchenne muscular dystrophy
15. CORE_TF: a user-friendly interface to identify evolutionary conserved transcription factor binding sites in sets of co-regulated genes
16. Literature-aided meta-analysis of microarray data: a compendium study on muscle development and disease
17. Reply to Nothnagel et al
18. Popper revisited: GWAS here, last year
19. Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy
20. Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications
21. Frequency of new copy number variation in humans
22. Genomics: The human genome, revisited
23. Gene expression variation between mouse inbred strains
24. Electronic EJHG: The Web and the Wider World
25. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
26. Advances in Duchenne muscular dystrophy gene therapy
27. New initiatives from EJHG, ESHG and Nature Publishing Group
28. Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere
29. Ptprj is a candidate for the mouse colon-cancer susceptibility locus Scc1 and is frequently deleted in human cancers
30. Editorial
31. Medical genomics
32. 2000: promises and plans
33. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients
34. Evolution of cardiac abnormalities in Becker muscular dystrophy over a 13-year period
35. Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity
36. High-resolution mapping by YAC fragmentation of a 2.5-Mb Xp22 region containing the human RS, KFSD and CLS disease genes
37. Confinement of PGL, an Imprinted Gene Causing Hereditary Paragangliomas, to a 2-cM Interval on 11q22-q23 and Exclusion of DRD2 and NCAM as Candidate Genes
38. Human Genetics, a Prediction
39. An Xp22.1-p22.2 YAC Contig Encompassing the Disease Loci for RS, KFSD, CLS, HYP and RP15: Refined Localization of RS
40. A10-cM YAC Contig Spanning GLC1A, the Primary Open-Angle Glaucoma Locus at 1q23-q25
41. High resolution DNA Fiber–fish on yeast artificial chromosomes: direct visualization of DNA replication
42. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
43. Rapid detection of BRCA1 mutations by the protein truncation test
44. Somatic expansion of the (CAG) n repeat in Huntington disease brains
45. Expression of the Human Dp 71 (Apo-Dystrophin-1 ) Gene from a 760-kb DMD-YAC Transferred to Mouse Cells
46. Making ends meet
47. A polymorphic STS in intron 44 of the dystrophin gene
48. Further Localization of the Gene for Hereditary Paragangliomas and Evidence for Linkage in Unrelated Families
49. A high resolution deletion map of human chromosome Xp22
50. Fine structure physical mapping of 4S RNA genes on mitochondrial DNA ofSaccharomyces cerevisiae
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