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1. Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome

2. Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years

3. The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study

5. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

6. Implementation and evaluation of a national multidisciplinary kidney genetics clinic network over ten years

7. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

8. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

10. An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome

15. Development of a person-centred digital platform for the long-term support of people living with an adult-onset genetic disease predisposition: a mixed-methods study protocol

16. Investigation into the potential of tissue-specific promoters for gene supplementation therapy

20. The predicted effect and cost-effectiveness of tailoring colonoscopic surveillance according to mismatch repair gene in patients with Lynch syndrome

24. The Clinical and Psychosocial Outcomes for Women Who Received Unexpected Clinically Actionable Germline Information Identified through Research: An Exploratory Sequential Mixed-Methods Comparative Study

25. Real world outcomes and implementation pathways of exome sequencing in an adult genetic department

26. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

27. Heterogeneity in how women value risk-stratified breast screening

28. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

30. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

34. The genomic landscape of phaeochromocytoma

35. Additional file 1 of Impact of national guidelines on use of BRCA1/2 germline testing, risk management advice given to women with pathogenic BRCA1/2 variants and uptake of advice

36. Additional file 2 of Impact of national guidelines on use of BRCA1/2 germline testing, risk management advice given to women with pathogenic BRCA1/2 variants and uptake of advice

37. Additional file 3 of Impact of national guidelines on use of BRCA1/2 germline testing, risk management advice given to women with pathogenic BRCA1/2 variants and uptake of advice

38. Author Correction : A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.

40. Spot Diagnosis

41. Additional file 1 of Germline whole exome sequencing of a family with appendiceal mucinous tumours presenting with pseudomyxoma peritonei

42. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

43. Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

44. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

47. Rare variants in XRCC2 as breast cancer susceptibility alleles

49. Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility

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