41 results on '"Bowles, Karla R."'
Search Results
2. BRCA1 and BRCA2 Testing in Inherited Breast Cancer
3. Discordance between germline genetic findings and abnormal tumor immunohistochemistry staining of mismatch repair proteins in individuals with suspected Lynch syndrome
4. Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes
5. Discordance between germline genetic findings and abnormal tumor immunohistochemistry staining of mismatch repair proteins in individuals with suspected Lynch syndrome.
6. BRCA1 and BRCA2 Testing in Inherited Breast Cancer
7. Intrafamilial variability of noncompaction of the ventricular myocardium
8. The “Final Common Pathway” Hypothesis and Inherited Cardiovascular Disease The Role of Cytoskeletal Proteins in Dilated Cardiomyopathy: The Role of Cytoskeletal Proteins in Dilated Cardiomyopathy
9. Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay
10. Impact of a Cancer Gene Variant Reclassification Program Over a 20-Year Period
11. Novel Gene Mutations in Patients with Left Ventricular Noncompaction and Evidence for Genetic Heterogeneity
12. Viral Genomic Detection and Outcome in Myocarditis
13. Genetics of inherited cardiomyopathies
14. Mutations in Cypher/ZASPin patients with dilated cardiomyopathy and left ventricular non-compaction
15. Mutations in the human δ-sarcoglycan gene in familial and sporadic dilated cardiomyopathy
16. Hereditary cancer testing challenges: assembling the analytical pieces to solve the patient clinical puzzle
17. Gene Mapping of Familial Autosomal Dominant Dilated Cardiomyopathy to Chromosome 10q21-23
18. Revised fine mapping of the human voltage-dependent anion channel loci by radiation hybrid analysis
19. Complexities of Variant Classification in Clinical Hereditary Cancer Genetic Testing
20. Classification of genetic variants in genes associated with Lynch syndrome using a clinical history weighting algorithm
21. Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome
22. Viral Endomyocardial Infection Is an Independent Predictor and Potentially Treatable Risk Factor for Graft Loss and Coronary Vasculopathy in Pediatric Cardiac Transplant Recipients
23. Viral epidemiologic shift in inflammatory heart disease: The increasing involvement of parvovirus B19 in the myocardium of pediatric cardiac transplant patients
24. Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity
25. Danon Disease as an Underrecognized Cause of Hypertrophic Cardiomyopathy in Children
26. Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, α-dystrobrevin and FK Binding Protein-12
27. Mutations in the muscle LIM protein and α-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis
28. Detection of viruses in myocardial tissues by polymerase chain reaction
29. Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction
30. Novel Gene Mutations in Patients With Left Ventricular Noncompaction or Barth Syndrome
31. Construction of a High-Resolution Physical Map of the Chromosome 10q22–q23 Dilated Cardiomyopathy Locus and Analysis of Candidate Genes
32. Genomic Organization and Chromosomal Localization of the Human Coxsackievirus B-Adenovirus Receptor Gene
33. Etiologies of cardiomyopathy and heart failure
34. The Identification of a G4.5 mutation in a Patient with Idiopathic Dilated Cardiomyopathy • 88
35. THE IDENTIFICATION OF A NOVEL G4.5 MUTATION IN BARTH SYNDROME• 96
36. Detection of viruses in myocardial tissues by polymerase chain reaction evidence of adenovirus as a common cause of myocarditis in children and adults
37. Genetic Variants in Breast Cancer.
38. The Identification of a G4.5mutation in a Patient with Idiopathic Dilated Cardiomyopathy • 88
39. THE IDENTIFICATION OF A NOVEL G4.5MUTATION IN BARTH SYNDROME• 96
40. Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, alpha-dystrobrevin and FK Binding Protein-12.
41. Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis.
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