Works by Koskenvuo, Juha W.
Results: 25
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
- Published in:
- Human Mutation, 2018, v. 39, n. 11, p. 1641, doi. 10.1002/humu.23643
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- Article
Fractionation of mouse bone-marrow cells limits functional efficacy in non-reperfused mouse model of acute myocardial infarction.
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- Annals of Medicine, 2012, v. 44, n. 8, p. 829, doi. 10.3109/07853890.2012.672026
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- Article
Comparison of MRI and positron emission tomography for measuring myocardial perfusion reserve in healthy humans.
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- Magnetic Resonance in Medicine, 2006, v. 55, n. 4, p. 772, doi. 10.1002/mrm.20833
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- Article
Racial Disparities in Genetic Detection Rates for Inherited Retinal Diseases.
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- JAMA Ophthalmology, 2024, v. 142, n. 12, p. 1150, doi. 10.1001/jamaophthalmol.2024.4696
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- Article
Pravastatin-induced improvement in coronary reactivity and circulating ATP and ADP levels in young adults with type 1 diabetes.
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- Frontiers in Physiology, 2012, v. 3, p. 1, doi. 10.3389/fphys.2012.00338
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- Article
Pravastatin-induced improvement in coronary reactivity and circulating ATP and ADP levels in young adults with type 1 diabetes.
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- Frontiers in Physiology, 2012, v. 3, p. 1, doi. 10.3389/fphys.2012.00338
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- Article
Loss of Bone Morphogenetic Protein Receptor 2 Is Associated with Abnormal DNA Repair in Pulmonary Arterial Hypertension.
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- American Journal of Respiratory Cell & Molecular Biology, 2014, v. 50, n. 6, p. 1118, doi. 10.1165/rcmb.2013-0349OC
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- Article
ESC EORP Cardiomyopathy Registry: real‐life practice of genetic counselling and testing in adult cardiomyopathy patients.
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- ESC Heart Failure, 2020, v. 7, n. 5, p. 3013, doi. 10.1002/ehf2.12925
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- Article
Evidence of diminished coronary flow in pulmonary hypertension - explaining angina pectoris in this patient group?
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- Clinical Physiology & Functional Imaging, 2011, v. 31, n. 6, p. 477, doi. 10.1111/j.1475-097X.2011.01049.x
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- Article
Diagnostic performance of cardiac magnetic resonance imaging in coronary artery disease.
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- Clinical Physiology & Functional Imaging, 2010, v. 30, n. 2, p. 89, doi. 10.1111/j.1475-097X.2009.00908.x
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- Article
Cardiac magnetic resonance imaging in valvular heart disease.
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- Clinical Physiology & Functional Imaging, 2009, v. 29, n. 4, p. 229, doi. 10.1111/j.1475-097X.2009.00865.x
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- Article
Echocardiography in Fabry disease: diagnostic value of endocardial border binary appearance.
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- Clinical Physiology & Functional Imaging, 2009, v. 29, n. 3, p. 177, doi. 10.1111/j.1475-097X.2008.00851.x
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- Article
Cardiac MRI: accuracy of simultaneous measurement of left and right ventricular parameters using three different sequences.
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- Clinical Physiology & Functional Imaging, 2007, v. 27, n. 6, p. 385, doi. 10.1111/j.1475-097X.2007.00764.x
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- Article
Prevalence of Titin Truncating Variants in General Population.
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- PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0145284
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- Article
Accurate genetic diagnosis of Finnish pulmonary arterial hypertension patients using oligonucleotide-selective sequencing.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 4, p. 354, doi. 10.1002/mgg3.147
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- Article
Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.
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- PLoS ONE, 2021, v. 16, n. 2, p. 1, doi. 10.1371/journal.pone.0245681
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- Article
Cardiopulmonary involvement in Fabry's disease.
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- Acta Cardiologica, 2010, v. 65, n. 2, p. 185, doi. 10.2143/AC.65.2.2047052
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- Article
Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2.
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- BMC Medical Genetics, 2017, v. 18, n. 1, p. 1, doi. 10.1186/s12881-017-0442-3
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- Article
Global myocardial blood flow and global flow reserve measurements by MRI and PET are comparable.
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- 2001
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- Publication type:
- journal article
Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy.
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- European Heart Journal, 2015, v. 36, n. 34, p. 2327, doi. 10.1093/eurheartj/ehv253
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- Article
DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy.
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- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0955-z
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- Article
Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.
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- PLoS ONE, 2018, v. 13, n. 9, p. 1, doi. 10.1371/journal.pone.0203422
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- Publication type:
- Article
Reference Values for Echocardiography in Middle-Aged Population: The Cardiovascular Risk in Young Finns Study.
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- Echocardiography, 2016, v. 33, n. 2, p. 193, doi. 10.1111/echo.13025
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- Article
Expanding the phenotype of Timothy syndrome type 2: An adolescent with ventricular fibrillation but normal development.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 629, doi. 10.1002/ajmg.a.36924
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- Article
Effects of cognac on coronary flow reserve and plasma antioxidant status in healthy young men.
- Published in:
- Cardiovascular Ultrasound, 2008, v. 6, p. 1, doi. 10.1186/1476-7120-6-25
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- Publication type:
- Article