Search

Your search keyword '"Caliebe, A"' showing total 137 results

Search Constraints

Start Over You searched for: Author "Caliebe, A" Remove constraint Author: "Caliebe, A" Topic genetics Remove constraint Topic: genetics
137 results on '"Caliebe, A"'

Search Results

1. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

2. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

3. Equivalent DNA methylation variation between monozygotic co-twins and unrelated individuals reveals universal epigenetic inter-individual dissimilarity

4. Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.

5. Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.

6. Systematic review of Mendelian randomization studies on Parkinson’s disease

7. Genome sequencing in families with congenital limb malformations

8. Validation and beyond: Next generation sequencing of forensic casework samples including challenging tissue samples from altered human corpses using the <scp>MiSeq FGx</scp> system

9. Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

10. Exome-Wide Association Study Identifies FN3KRP and PGP as New Candidate Longevity Genes

11. Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in protein kinase D1

12. Beweiskraft von DNA-Spuren: Was macht das Y-Chromosom so besonders?

13. Recommendations for the successful identification of altered human remains using standard and emerging technologies: Results of a systematic approach

14. Validity and Prognostic Value of a Polygenic Risk Score for Parkinson’s Disease

15. Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2

16. DNA commission of the International Society of Forensic Genetics (ISFG)

17. The metabolic network coherence of human transcriptomes is associated with genetic variation at the cadherin 18 locus

18. Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease

19. Two or three contributors of DNA mixtures? – Some practical considerations

21. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

22. A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development

23. Mutations in <scp>CDK</scp> 5 <scp>RAP</scp> 2 cause Seckel syndrome

24. Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease

25. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

26. Comparison of Markov Chain Monte Carlo Software for the Evolutionary Analysis of Y-Chromosomal Microsatellite Data

27. Estimation of Y haplotype frequencies with lower order dependencies

28. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

29. A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder

30. Contributors are a nuisance (parameter) for DNA mixture evidence evaluation

31. DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs

32. Match probabilities for Y-chromosomal profiles: A paradigm shift

33. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

34. Ancient DNA study reveals HLA susceptibility locus for leprosy in medieval Europeans

35. Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10

36. No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control

37. Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report

38. The more the merrier? How a few SNPs predict pigmentation phenotypes in the Northern German population

39. Array-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype

40. Predictive values in Forensic DNA Phenotyping are not necessarily prevalence-dependent

41. Identification and characterization of two functional variants in the human longevity gene FOXO3

42. Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome

43. Frequent translocations of 11q13.2 and 19p13.2 in ovarian cancer

44. Adjustment for smoking does not alter the FOXO3A association with longevity

45. Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders

46. Analysis of SYCP3 encoding synaptonemal complex protein 3 in human aneuploidies

47. Estimating trace-suspect match probabilities for singleton Y-STR haplotypes using coalescent theory

48. Insights into early pig domestication provided by ancient DNA analysis

49. Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances

50. Immunochip analysis identifies association of the RAD50/IL13 region with human longevity

Catalog

Books, media, physical & digital resources