221 results on '"Spaendonck ‐ Zwarts, Karin Y."'
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2. SMARCA4-associated schwannomatosis
3. Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension
4. Pathogenic variants in three families with distal muscle involvement
5. The effect of tropomyosin variants on cardiomyocyte function and structure that underlie different clinical cardiomyopathy phenotypes
6. Dilated Cardiomyopathy
7. Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers.
8. Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers.
9. KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
10. Myofilament Remodeling and Function Is More Impaired in Peripartum Cardiomyopathy Compared with Dilated Cardiomyopathy and Ischemic Heart Disease
11. Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families
12. Pathogenic variants in three families with distal muscle involvement
13. RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling
14. A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation
15. KBTBD13 is a novel cardiomyopathy gene
16. Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations
17. Abstract 20814: High Rate of Atrial Arrhythmias in Individuals With Truncating Titin Mutations Including the First Dilated Cardiomyopathy Related Titin Founder Mutation
18. KBTBD13 is a novel cardiomyopathy gene
19. PO-02-059 NEW JOINT MODEL FOR THE DYNAMIC PREDICTION OF HEART FAILURE IN PHOSPHOLAMBAN P.(ARG14DEL) POSITIVE INDIVIDUALS
20. Pregnancy course and outcomes in women with arrhythmogenic right ventricular cardiomyopathy
21. Genetic advances in sarcomeric cardiomyopathies: state of the art
22. Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene
23. Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance
24. Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy
25. The effect of tropomyosin variants on cardiomyocyte function and structure that underlie different clinical cardiomyopathy phenotypes
26. Titin Circular RNAs Create a Back-Splice Motif Essential for SRSF10 Splicing
27. Pregnancy, cardiomyopathies, and genetics
28. Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics
29. Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 yearsʼ experience
30. Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy
31. Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy
32. Systematic review of pregnancy in women with inherited cardiomyopathies
33. Legius Syndrome in Fourteen Families
34. Familial dilated cardiomyopathy: another risk factor for anthracycline-induced cardiotoxicity?
35. Lamin A/C-related cardiac disease and pregnancy
36. The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening
37. DNA Analysis in Inherited Cardiomyopathies: Current Status and Clinical Relevance
38. KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
39. KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
40. Heritability in genetic heart disease: the role of genetic background
41. Mortality Risk Associated With Truncating Founder Mutations in Titin
42. Heritability in genetic heart disease : the role of genetic background
43. Mortality Risk Associated With Truncating Founder Mutations in Titin
44. Heritability in genetic heart disease: The role of genetic background
45. Mortality Risk Associated With Truncating Founder Mutations in Titin
46. Heritability in genetic heart disease:the role of genetic background
47. Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy
48. The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy.
49. The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy
50. Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy
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