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36 results on '"CMM Groep Kloosterman"'

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1. Mitochondrial H2O2 release does not directly cause damage to chromosomal DNA.

2. Comprehensive single-cell genome analysis at nucleotide resolution using the PTA Analysis Toolbox

3. Article Human induced pluripotent stem cells display a similar mutation burden as embryonic pluripotent cells in vivo

4. MutationalPatterns: the one stop shop for the analysis of mutational processes

5. Robust detection of translocations in lymphoma FFPE samples using targeted locus capture-based sequencing

6. Reconstructing single-cell karyotype alterations in colorectal cancer identifies punctuated and gradual diversification patterns

7. Integrated clinical and omics approach to rare diseases: Novel genes and oligogenic inheritance in holoprosencephaly

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

9. Single-Molecule Sequencing: Towards Clinical Applications

10. Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

11. Identification of human D lactate dehydrogenase deficiency

12. Enhancer hubs and loop collisions identified from single-allele topologies

13. Confirmation of a metastasis-specific microRNA signature in primary colon cancer

14. Lower frequency of the HLA-G UTR-4 haplotype in women with unexplained recurrent miscarriage

15. Mapping and phasing of structural variation in patient genomes using nanopore sequencing

16. Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease

17. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

18. Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells

19. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

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

22. Transmission of human mtDNA heteroplasmy in the genome of the Netherlands families: Support for a variable-size bottleneck

23. IMIQUIMOD IN CERVICAL, VAGINAL AND VULVAR INTRAEPITHELIAL NEOPLASIA: A REVIEW

24. A framework for the detection of de novo mutations in family-based sequencing data

25. Mechanisms of therapy resistance in patient-derived xenograft models of brca1-deficient breast cancer

26. Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

27. Metabolic Engineering toward Sustainable Production of Nylon-6

28. The presence of extra chromosomes leads to genomic instability

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

32. Clinical and molecular characterization of an infant with a tandem duplication and deletion of 19p13

33. Genome-wide patterns and properties of de novo mutations in humans

34. Characteristics of de novo structural changes in the human genome

35. Detailed imaging and genetic analysis reveal a secondary BRAF(L505H) resistance mutation and extensive intrapatient heterogeneity in metastatic BRAF mutant melanoma patients treated with vemurafenib

36. Chromothripsis in Healthy Individuals Affects Multiple Protein-Coding Genes and Can Result in Severe Congenital Abnormalities in Offspring

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