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215 results on '"Eleonora Porcu"'

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1. DNA methylation may partly explain psychotropic drug-induced metabolic side effects: results from a prospective 1-month observational study

2. Reproductive health in Turner’s syndrome: from puberty to pregnancy

3. Genome-wide Association Studies of Retinal Vessel Tortuosity Identify Numerous Novel Loci Revealing Genes and Pathways Associated With Ocular and Cardiometabolic Diseases

4. Quantifying the role of transcript levels in mediating DNA methylation effects on complex traits and diseases

5. Limited evidence for blood eQTLs in human sexual dimorphism

6. Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

7. Exploiting the mediating role of the metabolome to unravel transcript-to-phenotype associations

8. Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome

9. Omics-informed CNV calls reduce false-positive rates and improve power for CNV-trait associations

10. Triangulating evidence from longitudinal and Mendelian randomization studies of metabolomic biomarkers for type 2 diabetes

11. Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

12. Gene regulation contributes to explain the impact of early life socioeconomic disadvantage on adult inflammatory levels in two cohort studies

13. Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

14. Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation

15. CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

16. Bayesian association scan reveals loci associated with human lifespan and linked biomarkers

17. Bridging the gap: metabolic and endocrine care of patients during transition

18. Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.

19. A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.

20. A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.

24. Correction for participation bias in the UK Biobank reveals non-negligible impact on genetic associations and downstream analyses

25. A polygenic risk score to predict sudden cardiac arrest in patients with coronary artery disease

26. Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

27. Exploiting the mediating role of the metabolome to unravel transcript-to-phenotype associations

28. Two subsequent seminal productions: A good strategy to treat very severe oligoasthenoteratozoospermic infertile couples

29. Genome-wide association study of circulating interleukin 6 levels identifies novel loci

30. PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity

31. Uterine Preservation Treatments in Sarcomas: Oncological Problems and Reproductive Results: A Systematic Review

32. The individual and global impact of copy-number variants on complex human traits

33. Quantifying mediation between omics layers and complex traits

34. Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

35. Genetic insights into biological mechanisms governing human ovarian ageing

36. P–486 Psychological determinants of the decision to attend couples infertility counselling

37. P–098 Use of Dimethylxanthine Theophylline in surgical retrieved sperms that do not recover motility after thawing

38. P–794 Prevalence of positivity for SARS-CoV–2 RNA in follicular fluid in infertile patients

39. Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome

40. Triangulating evidence from longitudinal and Mendelian randomization studies of metabolomic biomarkers for type 2 diabetes

41. Gene regulation contributes to explain the impact of early life socioeconomic disadvantage on adult inflammatory levels in two cohort studies

42. A cross-disorder dosage sensitivity map of the human genome

43. Genetic insights into the biological mechanisms governing human ovarian ageing

44. High-security closed devices are efficient and safe to protect human oocytes from potential risk of viral contamination during vitrification and storage especially in the COVID-19 pandemic

45. Self-efficacy, coping strategies and quality of life in women and men requiring assisted reproductive technology treatments for anatomical or non-anatomical infertility

46. A cross-disorder dosage sensitivity map of the human genome

47. Successful Pregnancies, Births, and Children Development Following Oocyte Cryostorage in Female Cancer Patients During 25 Years of Fertility Preservation

48. HIGH SECURITY CLOSED DEVICES ARE EFFICIENT AND SAFE FOR VITRIFICATION TO PROTECT HUMAN OOCYTES FROM THE RISK OF VIRAL CONTAMINATION ESPECIALLY DURING THE COVID-19 PANDEMIC

49. Identification of metabolomics biomarkers for type 2 diabetes: triangulating evidence from longitudinal and Mendelian randomization analyses

50. The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms

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