251 results on '"Alastalo, Tero-Pekka"'
Search Results
2. Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients
3. Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia
4. Whole-Exome Sequencing Reveals TopBP1 as a Novel Gene in Idiopathic Pulmonary Arterial Hypertension
5. A comparison of echocardiography to invasive measurement in the evaluation of pulmonary arterial hypertension in a rat model.
6. Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients
7. Publisher Correction: Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy
8. Genomic Organization and Promoter Analysis of the Human Heat Shock Factor 2 Gene
9. DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy
10. Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy
11. PO-01-015 YIELD OF GENETIC TESTING AND RESULT UTILITY IN A COHORT OF 2100 DCM PATIENTS
12. Targeting the Wnt signaling pathways in pulmonary arterial hypertension
13. Extracellular ATP protects endothelial cells against DNA damage
14. Bone Morphogenetic Protein 2 Induces Pulmonary Angiogenesis via Wnt-β-Catenin and Wnt-RhoA-Rac1 Pathways
15. Novel Dominant–Negative Mutation in Cardiac Troponin I Causes Severe Restrictive Cardiomyopathy
16. The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy
17. Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability
18. Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients
19. GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy
20. Genetics and genotype–phenotype correlations in Finnish patients with dilated cardiomyopathy
21. LMNA Mutation c.917T>G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging
22. Expanding the Phenotype of Timothy Syndrome Type 2: An Adolescent with Ventricular Fibrillation but Normal Development
23. GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy
24. Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis
25. Disruption of [PPAR.sub.γ]/β-catenin-mediated regulation of apelin impairs BMP-induced mouse and human pulmonary arterial EC survival
26. Loss of Bone Morphogenetic Protein Receptor 2 Is Associated with Abnormal DNA Repair in Pulmonary Arterial Hypertension
27. Bone morphogenetic protein 2 induces pulmonary angiogenesis via Wnt-[beta]-catenin and Wnt-RhoA-Rac1 pathways
28. Diagnostic Utility of Next-Generation Sequencing-Based Panel Testing in 543 Patients with Suspected Skeletal Dysplasia
29. An antiproliferative BMP-2/PPAR[gamma]/apoE axis in human and murine SMCs and its role in pulmonary hypertension
30. Publisher Correction: Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy (Scientific Reports, (2019), 9, 1, (4093), 10.1038/s41598-019-39911-x)
31. Retrospective review of mitochondrial genome analysis in over 7000 patients using clinical grade mtDNA sequencing
32. Biallelic NRAP variants are a significant cause of dilated cardiomyopathy
33. Retrospective review of genetic testing for inherited bone marrow failure syndromes
34. Next-generation sequencing panels for hereditary hearing loss testing with approaches for difficult-to-sequence regions
35. Diagnostic utility of next-generation sequencing panel tests in the diagnosis of skeletal dysplasias
36. Diagnostic yield and clinical utility of genetic testing in children with seizure onset after 2 years of age: an update
37. Brain abnormalities, defective meiotic chromosome synapsis and female subfertility in HSF2 null mice
38. Therapeutic potential of thymosin β4 in myocardial infarct and heart failure
39. Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy
40. Diagnostic yield and clinical utility of genetic testing in children with seizure onset after two years of age: Update over 2 1/2-year program in Europe and the Middle East
41. Genetic Resiliency Associated With Dominant Lethal TPM1 Mutation Causing Atrial Septal Defect With High Heritability
42. Autophagic Protein LC3B Confers Resistance against Hypoxia-induced Pulmonary Hypertension
43. Publisher Correction: Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy (Scientific Reports, (2019), 9, 1, (4093), 10.1038/s41598-019-39911-x)
44. Differentiation lineage-specific expression of human heat shock transcription factor 2
45. Utility of gene panel testing in children with seizure onset after 2 years of age: Results from a European and Middle Eastern epilepsy genetic testing program
46. 2019 updated consensus statement on the diagnosis and treatment of pediatric pulmonary hypertension: The European Pediatric Pulmonary Vascular Disease Network (EPPVDN), endorsed by AEPC, ESPR and ISHLT
47. eP363 - Retrospective review of genetic testing for inherited bone marrow failure syndromes
48. eP353 - Retrospective review of mitochondrial genome analysis in over 7000 patients using clinical grade mtDNA sequencing
49. eP346 - Diagnostic utility of next-generation sequencing panel tests in the diagnosis of skeletal dysplasias
50. eP345 - Next-generation sequencing panels for hereditary hearing loss testing with approaches for difficult-to-sequence regions
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