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115 results on '"Breckpot J"'

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1. Copy-number variation of the glucose transporter gene SLC2A3 and congenital heart defects in the 22q11.2 deletion syndrome

2. 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

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

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

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

6. 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

7. An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

8. Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility (Nature Genetics, (2022), 54, 3, (232-239), 10.1038/s41588-021-01007-6)

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

10. Transethnic genome-wide association study provides insights in the genetic architecture and heritability of long QT syndrome

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

12. Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

13. Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease

15. Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome .

16. Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

17. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

18. Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

19. Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

20. Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

23. Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

24. Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1

25. Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks

28. Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

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

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

32. Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

33. Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders.

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

35. Multiple paralogues and recombination mechanisms drive the high incidence of 22q11.2 Deletion Syndrome.

36. Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return.

37. Tools to differentiate between Filamin C and Titin truncating variant carriers: value of MRI.

38. Cell-free DNA methylome analysis for early preeclampsia prediction.

39. Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.

40. Individualized QT interval (QTi) is a powerful diagnostic tool in long QT syndrome: results from a large validation study.

41. ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.

42. Language Profiles of School-Aged Children with 22q11.2 Copy Number Variants.

43. Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions.

44. Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge.

45. Parent-Reported Social-Communicative Skills of Children with 22q11.2 Copy Number Variants and Siblings.

46. An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

47. 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.

48. Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.

49. Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement.

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