417 results on '"Dooijes D"'
Search Results
2. BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants—design and status
3. UNRAVEL: big data analytics research data platform to improve care of patients with cardiomyopathies using routine electronic health records and standardised biobanking
4. Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity:an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers
5. Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity: an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers
6. Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy*
7. Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands*
8. Recurrent and founder mutations in the Netherlands: Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia*
9. Evaluation of gene panels for inherited cardiac disease—is less more?
10. Arrhythmogenic cardiomyopathy: diagnosis, genetic background, and risk management
11. Low yield of genetic screening in patients initially diagnosed with idiopathic ventricular fibrillation: 2.27
12. The Netherlands Arrhythmogenic Cardiomyopathy Registry: design and status update
13. Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy*
14. Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands*
15. Recurrent and founder mutations in the Netherlands: Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia*
16. BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants—design and status
17. BIO FOr CARE:biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants—design and status
18. BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants-design and status
19. Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy
20. Recurrent and founder mutations in the Netherlands: Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia
21. Activation delay as universal criterion for ARVD/C diagnosis
22. Identification of novel spinocerebellar ataxia disease genes using next generation sequencing approaches: 160
23. Congenital posterior pole cataract and adult onset dilating cardiomyopathy: expanding the phenotype of αB-crystallinopathies
24. A Decade of Genetic Counseling in Frontotemporal Dementia Affected Families: Few Counseling Requests and much Familial Opposition to Testing
25. Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome
26. A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting
27. Familial screening and genetic counselling in hypertrophic cardiomyopathy: the Rotterdam experience
28. A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene
29. A mutation update for the FLNC gene in myopathies and cardiomyopathies
30. Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy
31. Prenatal ultrasound diagnosis of MYH7 non-compaction cardiomyopathy
32. P118The HCM-associated cardiac Troponin T mutation K280N causes reduced responsiveness to protein kinase A
33. 592 Using Phenotype and Genomics to Solve Undiagnosed Cardiac Diseases: A Family With Unsolved Conduction Disease and Sudden Cardiac Death
34. Genomic organization of the segment polarity gene pan in Drosophila melanogaster
35. Glycogen storage disease type IV: a rare cause for neuromuscular disorders of often missed?
36. The use of genetic testing in hereditary colorectal cancer syndromes: genetic testing in HNPCC, (A)FAP and MAP
37. Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy
38. The Netherlands Arrhythmogenic Cardiomyopathy Registry: design and status update
39. Evaluation of gene panels for inherited cardiac disease—is less more?
40. UNRAVEL: big data analytics research data platform to improve care of patients with cardiomyopathies using routine electronic health records and standardised biobanking
41. The Netherlands Arrhythmogenic Cardiomyopathy Registry: design and status update
42. Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations
43. Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy
44. Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy
45. Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia
46. The HCM-associated cardiac Troponin T mutation K280N causes reduced responsiveness to protein kinase A
47. Truncating Titin ( TTN) Variants in Chemotherapy-Induced Cardiomyopathy
48. Unequal crossovers in a 2 kb recombinational hotspot as a cause of NF1 microdeletionsNF1
49. Nemaline myopathy caused by TNNT1 mutations in a Dutch pedigree
50. Sequence-specific High Mobility Group Box Factors Recognize 10–12-Base Pair Minor Groove Motifs
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