30 results on '"A Krebsova"'
Search Results
2. Natural History of MYH7-Related Dilated Cardiomyopathy
3. Mutation in a non-desmosomal gene is associated with poor outcome of endo-epicardial ventricular tachycardia ablation in patients with nonischaemic cardiomyopathy
4. Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings
5. Concealed cardiomyopathy as a frequent cause of idiopathic ventricular fibrillation in a representative Czech cohort of survivors of sudden cardiac arrest (SCA)
6. Outcomes of post mortem genetic diagnosis in SCD victims and primary prevention of cardiac arrest in relatives: a nationwide multidisciplinary and multicentric collaboration in the Czechia
7. Comparison of variant detection rate in genes between two cohorts of Czech living patients versus victims of sudden cardiac death with clinical / post mortem diagnosis of non-ischemic cardiomyopathy
8. Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study
9. Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease
10. P1107First results of molecular autopsy examinations in sudden cardiac death drawn from nationwide multidisciplinary and multicentric collaboration in the Czech Republic
11. Homozygosity Mapping of a Second Gene Locus for Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors (FMFD) to Chromosome 16
12. Alu ‐mediated Xq24 deletion encompassing CUL4B , LAMP2 , ATP1B4 , TMEM255A , and ZBTB33 genes causes Danon disease in a female patient
13. P5610Inflammatory response after ExoVasc personalized external aortic root support (PEARS) procedure in patients with Marfan syndrome or non-Marfan genetic aortopathy
14. 5162Novel insights into desminopathy in the era of next generation sequencing
15. LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
16. P1817Non-truncating Filamin C variants represent disease-causing mutations in dilated cardiomyopathy
17. 3946Comparison of genetic signature of isolated left ventricular non-compaction cardiomyopathy and familial dilated cardiomyopathy as assessed by whole exome sequencing
18. Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor
19. 601Genetic testing identified arrhythmogenic cardiomyopathy with predominant left ventricular involvement in a cohort of patients with clinical diagnosis of familiar dilated cardiomyopathy
20. 1222Characteristics of an arrhythmogenic substrate and results of catheter ablation of ventricular arrhythmias in patients with desmoplakin mutation associated arrhythmogenic cardiomyopathy
21. Besprechungen
22. PREGNANCY— ASSOCIATED PLASMA PROTEIN-A AND PROFORM OF EOSINOPHILIC MAJOR BASIC PROTEIN IN THE DETECTION OF ACUTE CORONARY SYNDROME
23. QF-PCR Examination of Parental and Meiotic Origin of Trisomy 21 in Central and Eastern Europe
24. Fine mapping of autosomal dominant nonsyndromic hearing impairmentDFNA21 to chromosome 6p24.1-22.3
25. Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K–dependent clotting factors to the centromeric region of chromosome 16
26. Premature Chromosome Condensation in Humans Associated with Microcephaly and Mental Retardation: A Novel Autosomal Recessive Condition
27. Association of human aging with a functional variant of klotho
28. Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21)
29. Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13
30. 20. A high frequency of the CFTRdel21kb mutation in the Czech population raises the total detection rate to over 95%
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