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Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Cross-Curricular Activities to Foster Computational Thinking and Engineering Design.
- Published in:
- Early Childhood Education, 2018, v. 45, n. 1, p. 13
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- Publication type:
- Article
607: SUCCESSFUL TREATMENT OF THERAPY-RESISTANT LEFT VENTRICULAR OUTFLOW OBSTRUCTION IN CHILDHOOD HYPERTROPHIC CARDIOMYOPATHY USING SHORT ATRIOVENTRICULAR DELAY DUALCHAMBER PACING WITH A LEFT VENTRICULAR EPICARDIAL ELECTRODE.
- Published in:
- Cardiovascular Journal of Africa, 2013, v. 24, n. 1, p. 26
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- Publication type:
- Article
In situ genotyping individual DNA molecules by target-primed rolling-circle amplification of padlock probes.
- Published in:
- Nature Methods, 2004, v. 1, n. 3, p. 227, doi. 10.1038/nmeth723
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- Publication type:
- Article
Colorimetric quantification of mRNA expression in rare tumour cells amplified by multiple ligation-dependent probe amplification.
- Published in:
- Analytical & Bioanalytical Chemistry, 2010, v. 397, n. 6, p. 2325, doi. 10.1007/s00216-010-3830-5
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- Publication type:
- Article
Fitting Membrane Resistance along with Action Potential Shape in Cardiac Myocytes Improves Convergence: Application of a Multi-Objective Parallel Genetic Algorithm.
- Published in:
- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0107984
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- Publication type:
- Article
The Role of Purkinje-Myocardial Coupling during Ventricular Arrhythmia: A Modeling Study.
- Published in:
- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0088000
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- Publication type:
- Article
Delayed contrast agent kinetics in ischemic skeletal muscle.
- Published in:
- Journal of Magnetic Resonance Imaging, 2006, v. 23, n. 2, p. 171, doi. 10.1002/jmri.20482
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- Publication type:
- Article
Shortened T2 after exercise in ischemic skeletal muscle.
- Published in:
- Journal of Magnetic Resonance Imaging, 2006, v. 23, n. 2, p. 177, doi. 10.1002/jmri.20481
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- Publication type:
- Article
ATX-II Effects on the Apparent Location of M Cells in a Computational Model of a Human Left Ventricular Wedge.
- Published in:
- Journal of Cardiovascular Electrophysiology, 2006, v. 17, p. S86, doi. 10.1111/j.1540-8167.2006.00389.x
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- Publication type:
- Article
Measurements of Electrophysiological Effects of Components of Acute Ischemia in Langendorff-Perfused Rat Hearts Using Voltage-Sensitive Dye Mapping.
- Published in:
- Journal of Cardiovascular Electrophysiology, 2006, v. 17, p. S113, doi. 10.1111/j.1540-8167.2006.00392.x
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- Publication type:
- Article
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1315, doi. 10.1038/ejhg.2010.105
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- Publication type:
- Article
A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1276, doi. 10.1038/sj.ejhg.5201924
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- Publication type:
- Article
Dilated cardiomyopathy is associated with reduced expression of the cardiac sodium channel Scn5a
- Published in:
- Cardiovascular Research, 2007, v. 75, n. 3, p. 498, doi. 10.1016/j.cardiores.2007.04.009
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- Publication type:
- Article
Sinus node dysfunction in patients with Fontan circulation: could heart rate variability be a predictor for pacemaker implantation?
- Published in:
- Pediatric Cardiology, 2019, v. 40, n. 4, p. 685, doi. 10.1007/s00246-019-02092-5
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- Publication type:
- Article
MR Imaging of Arrhythmogenic Right Ventricular Cardiomyopathy: Morphologic Findings and Interobserver Reliability.
- Published in:
- Cardiology, 2003, v. 99, n. 3, p. 153, doi. 10.1159/000070672
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- Publication type:
- Article
Rapid and quantitative detection of homologous and non-homologous recombination events using three oligonucleotide MLPA.
- Published in:
- Nucleic Acids Research, 2005, v. 33, n. 22, p. e188, doi. 10.1093/nar/gni187
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- Publication type:
- Article
Methylation-Specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences.
- Published in:
- Nucleic Acids Research, 2005, v. 33, n. 14, p. e128, doi. 10.1093/nar/gni127
- By:
- Publication type:
- Article
A robust multi-objective optimization framework to capture both cellular and intercellular properties in cardiac cellular model tuning: Analyzing different regions of membrane resistance profile in parameter fitting.
- Published in:
- PLoS ONE, 2019, v. 14, n. 11, p. 1, doi. 10.1371/journal.pone.0225245
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- Publication type:
- Article
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 4, p. 1078, doi. 10.1093/brain/awn026
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- Publication type:
- Article
Quantification of Fetal DNA by Use of Methylation-Based DNA Discrimination.
- Published in:
- Clinical Chemistry, 2010, v. 56, n. 10, p. 1627, doi. 10.1373/clinchem.2010.146290
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- Publication type:
- Article
LUTHER'S DOCTRINE OF THE TWO KINGDOMS.
- Published in:
- Ecumenical Review, 1949, v. 1, n. 3, p. 301, doi. 10.1111/j.1758-6623.1949.tb03072.x
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- Publication type:
- Article
DOSE EVALUATION AND PROPOSAL OF LOCAL DIAGNOSTIC REFERENCE LEVELS FOR PAEDIATRIC CARDIAC CATHETERIZATIONS PERFORMED ON A HIGH-SENSITIVITY ANGIOGRAPHIC SYSTEM ALLOWING LOW-DOSE IMAGING.
- Published in:
- Radiation Protection Dosimetry, 2021, v. 192, n. 3/4, p. 279, doi. 10.1093/rpd/ncab072
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- Publication type:
- Article
Screening for large mutations of the NF2 gene.
- Published in:
- Genes, Chromosomes & Cancer, 2005, v. 42, n. 4, p. 384, doi. 10.1002/gcc.20138
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- Publication type:
- Article
The effect of AMPD1 genotype on blood flow response to sprint exercise.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Interplay among distinct Ca<sup>2+</sup> conductances drives Ca<sup>2+</sup> sparks/spontaneous transient outward currents in rat cerebral arteries.
- Published in:
- Journal of Physiology, 2017, v. 595, n. 4, p. 1111, doi. 10.1113/JP273329
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- Publication type:
- Article
Pacemaker treatment after Fontan surgery—A Swedish national study.
- Published in:
- Congenital Heart Disease, 2019, v. 14, n. 4, p. 582, doi. 10.1111/chd.12766
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- Publication type:
- Article
Different thresholds of tissue-specific dose-responses to growth hormone in short prepubertal children.
- Published in:
- BMC Endocrine Disorders, 2012, v. 12, n. 1, p. 26, doi. 10.1186/1472-6823-12-26
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- Publication type:
- Article
High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes.
- Published in:
- Human Mutation, 2008, v. 29, n. 10, p. 1247, doi. 10.1002/humu.20751
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- Publication type:
- Article
Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause.
- Published in:
- Human Mutation, 2007, v. 28, n. 7, p. 739, doi. 10.1002/humu.20508
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- Publication type:
- Article
Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany.
- Published in:
- Human Mutation, 2007, v. 28, n. 2, p. 207, doi. 10.1002/humu.9481
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- Publication type:
- Article
Swedish children with hereditary angioedema report good overall health and quality of life despite symptoms.
- Published in:
- 2016
- By:
- Publication type:
- journal article
An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion.
- Published in:
- 2007
- By:
- Publication type:
- Letter
Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification.
- Published in:
- Movement Disorders, 2007, v. 22, n. 12, p. 1708, doi. 10.1002/mds.21370
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- Publication type:
- Article
Simulations of Reduced Conduction Reserve in the Diabetic Rat Heart: Response to Uncoupling and Reduced Excitability.
- Published in:
- Annals of Biomedical Engineering, 2010, v. 38, n. 4, p. 1415, doi. 10.1007/s10439-009-9855-2
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- Publication type:
- Article
Rapid cardiovascular effects of growth hormone treatment in short prepubertal children: impact of treatment duration.
- Published in:
- Clinical Endocrinology, 2012, v. 77, n. 6, p. 877, doi. 10.1111/j.1365-2265.2012.04456.x
- By:
- Publication type:
- Article
Transgenic mice overexpressing desmocollin-2 (DSC2) develop cardiomyopathy associated with myocardial inflammation and fibrotic remodeling.
- Published in:
- PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0174019
- By:
- Publication type:
- Article
Injection of low and iso-osmolar contrast medium decreases oxygen tension in the renal medulla.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Effects of contrast media and mannitol on renal medullary blood flow and red cell aggregation in the rat kidney.
- Published in:
- 1996
- By:
- Publication type:
- journal article