Search

Your search keyword '"Miedzybrodzka, Zosia"' showing total 308 results

Search Constraints

Start Over You searched for: Author "Miedzybrodzka, Zosia" Remove constraint Author: "Miedzybrodzka, Zosia"
308 results on '"Miedzybrodzka, Zosia"'

Search Results

3. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

4. Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing

7. Methods applied to neonatal dried blood spot samples for secondary research purposes: a scoping review

8. Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service

9. Feasibility and ethics of using data from the Scottish newborn blood spot archive for research

11. Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis

12. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.

13. Meaningful and Measurable Health Domains in Huntington’s Disease: Large-Scale Validation of the Huntington’s Disease Health-Related Quality of Life Questionnaire Across Severity Stages

14. Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

16. 27 years of prenatal diagnosis for Huntington disease in the United Kingdom

19. Severe Hypertriglyceridaemia and Chylomicronaemia Syndrome—Causes, Clinical Presentation, and Therapeutic Options

22. Table S1 from Optimized EGFR Blockade Strategies in EGFR Addicted Gastroesophageal Adenocarcinomas

23. Figure S3 from Optimized EGFR Blockade Strategies in EGFR Addicted Gastroesophageal Adenocarcinomas

26. Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome

27. Clinical case study meets population cohort: Identification of a BRCA1 pathogenic founder variant in Orcadians

30. Prevalence and architecture of de novo mutations in developmental disorders

31. Research feasibility and ethics in Scottish new-born blood spot archive.

32. Germline intergenic duplications at Xq26.1 underlie Bazex-Dupre-Christol syndrome, an inherited basal cell carcinoma susceptibility condition

33. Clinical case study meets population cohort: identification of a BRCA1pathogenic founder variant in Orcadians

36. Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland

38. Clinical and genetic characteristics of late-onset Huntington's disease

39. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

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

42. The contribution of X-linked coding variation to severe developmental disorders

44. Sporadic implementation of UK familial mammographic surveillance guidelines 15 years after original publication

45. GATA4 Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes

46. How young people find out about their family history of Huntington's disease

48. Optimized EGFR Blockade Strategies in EGFR Addicted Gastroesophageal Adenocarcinomas

49. New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy

50. Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE

Catalog

Books, media, physical & digital resources