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Your search keyword '"Laros, Jf"' showing total 25 results

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1. Skewed X-inactivation is common in the general female population

2. Zbtb24 binding protects promoter activity by antagonizing DNA methylation in mESCs

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3. Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories

4. Differential roles of epigenetic changes and Foxp3 expression in regulatory T cell-specific transcriptional regulation

5. FDSTools: A software package for analysis of massively parallel sequencing data with the ability to recognise and correct STR stutter and other PCR or sequencing noise.

6. Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients.

7. Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck.

8. The Implicitome: A Resource for Rationalizing Gene-Disease Associations.

9. Non-sequential and multi-step splicing of the dystrophin transcript.

11. An efficient algorithm for the extraction of HGVS variant descriptions from sequences.

12. 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.

13. Downregulation of the acetyl-CoA metabolic network in adipose tissue of obese diabetic individuals and recovery after weight loss.

14. TSSV: a tool for characterization of complex allelic variants in pure and mixed genomes.

15. Preserving sequence annotations across reference sequences.

16. A promoter-level mammalian expression atlas.

17. The Genome of the Netherlands: design, and project goals.

18. Determining the quality and complexity of next-generation sequencing data without a reference genome.

19. Aging as accelerated accumulation of somatic variants: whole-genome sequencing of centenarian and middle-aged monozygotic twin pairs.

20. DMD transcript imbalance determines dystrophin levels.

21. Exome sequencing of germline DNA from non-BRCA1/2 familial breast cancer cases selected on the basis of aCGH tumor profiling.

22. Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.

23. LOVD v.2.0: the next generation in gene variant databases.

24. A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form.

25. Tri-allelic SNP markers enable analysis of mixed and degraded DNA samples.