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Rapid progression of long-segment coarctation in a patient with Williams' syndrome.
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- Cardiology in the Young, 2005, v. 15, n. 3, p. 312, doi. 10.1017/S104795110500065X
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- Article
The pharmacokinetics of methadone and its metabolites in neonates, infants, and children.
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- Pediatric Anesthesia, 2014, v. 24, n. 6, p. 591, doi. 10.1111/pan.12385
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- Article
Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome.
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- PLoS Biology, 2019, v. 17, n. 8, p. 1, doi. 10.1371/journal.pbio.3000087
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- Article
Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome.
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- PLoS Biology, 2019, v. 17, n. 9, p. 1, doi. 10.1371/journal.pbio.3000087
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- Article
Limited Relationship Between Echocardiographic Measures and Electrocardiographic Markers of Left Ventricular Size in Healthy Children.
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- Pediatric Cardiology, 2024, v. 45, n. 5, p. 1055, doi. 10.1007/s00246-024-03448-2
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- Article
The voltage-sensitive cardiac M<sub>2</sub> muscarinic receptor modulates the inward rectification of the G protein-coupled, ACh-gated K<sup>+</sup> current.
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- Pflügers Archiv: European Journal of Physiology, 2018, v. 470, n. 12, p. 1765, doi. 10.1007/s00424-018-2196-y
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- Article
The agonist-specific voltage dependence of M2 muscarinic receptors modulates the deactivation of the acetylcholine-gated K current ( I).
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- Pflügers Archiv: European Journal of Physiology, 2016, v. 468, n. 7, p. 1207, doi. 10.1007/s00424-016-1812-y
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- Article
Kir 2.1 channelopathies: the Andersen–Tawil syndrome.
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- Pflügers Archiv: European Journal of Physiology, 2010, v. 460, n. 2, p. 289, doi. 10.1007/s00424-010-0820-6
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- Article
Sudden cardiac death in Andersen–Tawil syndrome.
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- EP: Europace, 2007, v. 9, n. 3, p. 162, doi. 10.1093/europace/eul188
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- Article
hERG potassium channels and cardiac arrhythmia.
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- Nature, 2006, v. 440, n. 7083, p. 463, doi. 10.1038/nature04710
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- Article
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease.
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- Genome Medicine, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13073-020-00738-1
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- Article
De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.
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- Genome Medicine, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13073-019-0709-8
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- Article
Common Variation in Cytoskeletal Genes Is Associated with Conotruncal Heart Defects.
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- Genes, 2021, v. 12, n. 5, p. 655, doi. 10.3390/genes12050655
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- Article
502: AN IN VIVO CARDIAC ASSAY TO DETERMINE THE FUNCTIONAL CONSEQUENCES OF PUTATIVE LONG QT SYNDROME MUTATIONS.
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- Cardiovascular Journal of Africa, 2013, v. 24, n. 1, p. 281
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- Article
Flecainide Suppresses Bidirectional Ventricular Tachycardia and Reverses Tachycardia-Induced Cardiomyopathy in Andersen-Tawil Syndrome.
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- Journal of Cardiovascular Electrophysiology, 2008, v. 19, n. 1, p. 95, doi. 10.1111/j.1540-8167.2007.00910.x
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- Article
Conformational changes in the M2 muscarinic receptor induced by membrane voltage and agonist binding.
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- Journal of Physiology, 2011, v. 589, n. 7, p. 1741, doi. 10.1113/jphysiol.2010.204107
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- Article
Relaxation gating of the acetylcholine-activated inward rectifier K.
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- Journal of Physiology, 2011, v. 589, n. 7, p. 1755, doi. 10.1113/jphysiol.2010.204115
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- Article
The Application of Root Mean Square Electrocardiography (RMS ECG) for the Detection of Acquired and Congenital Long QT Syndrome.
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- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085689
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- Article
Tamoxifen Inhibition of Kv7.2/Kv7.3 Channels.
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- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0076085
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- Article
Genetic and Physiologic Dissection of the Vertebrate Cardiac Conduction System.
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- PLoS Biology, 2008, v. 6, n. 5, p. e109, doi. 10.1371/journal.pbio.0060109
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- Article
Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment.
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- Nature Communications, 2022, v. 13, n. 1, p. N.PAG, doi. 10.1038/s41467-022-30236-4
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- Article
Author Correction: Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment.
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- 2022
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- Correction Notice
Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30236-4
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- Article
An explainable artificial intelligence approach for predicting cardiovascular outcomes using electronic health records.
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- PLoS Digital Health, 2022, v. 1, n. 1, p. 1, doi. 10.1371/journal.pdig.0000004
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- Article
Effective variant filtering and expected candidate variant yield in studies of rare human disease.
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- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00227-3
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- Article
Somatic mosaicism contributes to phenotypic variation in Timothy syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2578, doi. 10.1002/ajmg.a.34223
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- Article
Diversity of response in vascular smooth muscle cells to changes in oxygen tension.
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- Kidney International, 1997, v. 51, n. 2, p. 462, doi. 10.1038/ki.1997.62
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- Article
Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles.
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- PLoS Genetics, 2020, v. 16, n. 11, p. 1, doi. 10.1371/journal.pgen.1009189
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- Article
A Functional Assay for Sick Sinus Syndrome Genetic Variants.
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- Cellular Physiology & Biochemistry (Karger AG), 2017, v. 42, n. 5, p. 2021, doi. 10.1159/000479897
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- Article
Blebbistatin Effectively Uncouples the Excitation-Contraction Process in Zebrafish Embryonic Heart.
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- Cellular Physiology & Biochemistry (Karger AG), 2010, v. 25, n. 4/5, p. 419, doi. 10.1159/000303046
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- Article
Chloroquine Blocks a Mutant Kir2.1 Channel Responsible for Short QT Syndrome and Normalizes Repolarization Properties in silico.
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- Cellular Physiology & Biochemistry (Karger AG), 2009, v. 24, n. 3/4, p. 153, doi. 10.1159/000233241
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- Article
Cooperative Interactions Between R531 and Acidic Residues in the Voltage Sensing Module of hERG1 Channels.
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- Cellular Physiology & Biochemistry (Karger AG), 2008, v. 21, n. 1-3, p. 037, doi. 10.1159/000113745
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- Article
Voltage sensitivity of M<sub>2</sub> muscarinic receptors underlies the delayed rectifier-like activation of ACh-gated K<sup>+</sup> current by choline in feline atrial myocytes.
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- Journal of Physiology, 2013, v. 591, n. 17, p. 4273, doi. 10.1113/jphysiol.2013.255166
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- Article
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.
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- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12582-y
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- Article
Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.
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- Human Mutation, 2018, v. 39, n. 6, p. 870, doi. 10.1002/humu.23419
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- Article
American Heart Association's Children's Strategically Focused Research Network Experience.
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- Journal of the American Heart Association, 2023, v. 12, n. 7, p. 1, doi. 10.1161/JAHA.122.028356
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- Article
Exome Analysis of a Family with Wolff-Parkinson-White Syndrome Identifies a Novel Disease Locus.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2975, doi. 10.1002/ajmg.a.37297
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- Article
Modeling effects of voltage dependent properties of the cardiac muscarinic receptor on human sinus node function.
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- PLoS Computational Biology, 2018, v. 14, n. 10, p. 1, doi. 10.1371/journal.pcbi.1006438
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- Article
3-OST-7 Regulates BMP-Dependent Cardiac Contraction.
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- PLoS Biology, 2013, v. 11, n. 12, p. 1, doi. 10.1371/journal.pbio.1001727
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- Article
Voltage-dependent inactivation of the human K<sup>+</sup> channel KvLQT1 is eliminated by association with minimal K<sup>+</sup> channel (minK) subunits.
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- Journal of Physiology, 1998, v. 510, n. 1, p. 37, doi. 10.1111/j.1469-7793.1998.037bz.x
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- Article
Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1888
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- Article
Expanding the phenotype of CACNA1C mutation disorders.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1673
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- Article
Nebulized nitric oxide/nucleophile adduct reduces chronic pulmonary hypertension.
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- Cardiovascular Research, 1996, v. 31, n. 1, p. 55, doi. 10.1016/0008-6363(95)00172-7
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- Article