350 results on '"Postma, Alex V."'
Search Results
2. Molecular Pathways and Animal Models of Ebstein’s Anomaly
3. Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene
4. Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human
5. Common genetic variants improve risk stratification after the atrial switch operation for transposition of the great arteries
6. Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension
7. Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot
8. Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms
9. Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy
10. Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction
11. Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries
12. Flotillins in the intercalated disc are potential modulators of cardiac excitability
13. Loss-of-function variants in myocardin cause congenital megabladder in humans and mice
14. A validated heart-specific model for splice-disrupting variants in childhood heart disease
15. TGFBR1 Variants Can Associate with Non-Syndromic Congenital Heart Disease without Aortopathy
16. Developmental aspects of cardiac arrhythmias
17. Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human
18. Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene
19. Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human
20. TGFBR1 Variants Can Associate with Non-Syndromic Congenital Heart Disease without Aortopathy
21. Common genetic variants improve risk stratification after the atrial switch operation for transposition of the great arteries
22. Genetics of sinoatrial node function and heart rate disorders
23. Developmental Aspects of the Electrophysiology of the Heart: Function Follows Form
24. Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot
25. Developmental Aspects of the Electrophysiology of the Heart: Function Follows Form
26. Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
27. PRDM10 directs FLCN expression in a novel disorder overlapping with Birt–Hogg–Dubé syndrome and familial lipomatosis
28. No prominent role for complement C1-esterase inhibitor in Marfan syndrome mice
29. A novel alpha-tropomyosin mutation associates with dilated and non-compaction cardiomyopathy and diminishes actin binding
30. GMDS Intragenic Deletions Associate with Congenital Heart Disease including Ebstein Anomaly.
31. Erratum:Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms(Genet Med (2021)23(103-110)(s41436020009394)(10.1038/s41436-020-00939-4))
32. Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms
33. Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms
34. PRDM10 directs FLCN expression in a novel disorder overlapping with Birt–Hogg–Dubé syndrome and familial lipomatosis.
35. The human CASQ2 mutation K206N is associated with hyperglycosylation and altered cellular calcium handling
36. Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans
37. Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot (Genetics in Medicine, (2021), 23, 10, (1952-1960), 10.1038/s41436-021-01212-y)
38. A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function
39. Developmental and Genetic Aspects of Atrial Fibrillation
40. Erratum: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease (PLoS Genetics (2021) 17:7 (e1009679) DOI: 10.1371/journal.pgen.1009679)
41. The Clinical and Molecular Relations Between Idiopathic Preterm Labor and Maternal Congenital Heart Defects
42. A mutation in the Kozak sequence of GATA4 hampers translation in a family with atrial septal defects
43. Prevalence of congenital heart defects in neuroblastoma patients: a cohort study and systematic review of literature
44. Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease
45. Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease
46. Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant
47. Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries
48. Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease
49. Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant
50. Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant
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