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1,003 results on '"Bezzina, Connie R"'

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1. Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy

2. Evaluation of polygenic scores for hypertrophic cardiomyopathy in the general population and across clinical settings

3. The impact of common and rare genetic variants on bradyarrhythmia development

4. Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience

5. Rare coding variant analysis for human diseases across biobanks and ancestries

7. A validated heart-specific model for splice-disrupting variants in childhood heart disease

8. A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand

10. Publisher Correction: Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience

13. Novel risk predictor of arrhythmias for patients with potassium channel–related congenital long QT syndrome

14. Long-term prognosis of patients with an SCN5A loss-of-function variant and progressive cardiac conduction disorder or Brugada syndrome

19. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases

20. A comprehensive evaluation of the genetic architecture of sudden cardiac arrest

21. Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

23. Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

25. A Rare Noncoding Enhancer Variant in SCN5AContributes to the High Prevalence of Brugada Syndrome in Thailand

27. Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies

28. Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

29. Common and rare susceptibility genetic variants predisposing to Brugada syndrome in Thailand

31. Brugada syndrome in Japan and Europe: a genome-wide association study reveals shared genetic architecture and new risk loci

32. Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay

34. Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect

35. Genetic testing in early-onset atrial fibrillation

36. Genetic background determines the severity of age-dependent cardiac structural abnormalities and arrhythmia susceptibility in Scn5a-1798insD mice

37. Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy

39. Genome-Wide Association Study of Accessory Atrioventricular Pathways

40. Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

41. The Role of MAPRE2 and Microtubules in Maintaining Normal Ventricular Conduction

42. Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys)

44. The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy

45. Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

46. A rare non-coding enhancer variant in SCN5A contributes to the high prevalence of Brugada syndrome in Thailand

48. Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy

49. A validated heart-specific model for splice-disrupting variants in childhood heart disease

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