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CAPACITACIÓ LINGÜÍSTICA DOCENT EN LLENGÜES MINORITÀRIES: COMPETÈNCIA I DRETS. UNA ANÀLISI COMPARADA ENTRE ESPANYA, FRANÇA I LETÒNIA.
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- Journal of Language & Law / Revista de Llengua i Dret, 2024, n. 81, p. 241, doi. 10.58992/rld.i81.2024.3986
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- Publication type:
- Article
Determining the Pathogenicity of Genetic Variants Associated with Cardiac Channelopathies.
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- Scientific Reports, 2015, p. 7953, doi. 10.1038/srep07953
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- Publication type:
- Article
Genetics of sudden cardiac death in children and young athletes.
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- Cardiology in the Young, 2013, v. 23, n. 2, p. 159, doi. 10.1017/S1047951112001138
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- Publication type:
- Article
Role of genetic and electrolyte abnormalities in prolonged QTc interval and sudden cardiac death in end-stage renal disease patients.
- Published in:
- PLoS ONE, 2018, v. 13, n. 7, p. 1, doi. 10.1371/journal.pone.0200756
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- Publication type:
- Article
Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.
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- PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0189618
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- Publication type:
- Article
LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.
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- Frontiers in Genetics, 2023, v. 14, p. 01, doi. 10.3389/fgene.2023.1135438
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- Publication type:
- Article
Brugada syndrome and p.E61X_RANGRF.
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- Cardiology Journal, 2014, v. 21, n. 2, p. 121, doi. 10.5603/CJ.a2013.0125
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- Publication type:
- Article
Genetic analysis, in silico prediction, and family segregation in long QT syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 79, doi. 10.1038/ejhg.2014.54
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- Publication type:
- Article
Implementing a New Algorithm for Reinterpretation of Ambiguous Variants in Genetic Dilated Cardiomyopathy.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 7, p. 3807, doi. 10.3390/ijms25073807
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- Publication type:
- Article
Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 20, p. 12640, doi. 10.3390/ijms232012640
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- Publication type:
- Article
Eosinophilic Infiltration of the Sino-Atrial Node in Sudden Cardiac Death Caused by Long QT Syndrome.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 11666, doi. 10.3390/ijms231911666
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- Publication type:
- Article
Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death.
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- International Journal of Molecular Sciences, 2015, v. 16, n. 10, p. 25773, doi. 10.3390/ijms161025773
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- Publication type:
- Article
Niveles de actividad física en población adolescente: estudio de caso.
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- Retos: Nuevas Perspectivas de Educación Física, Deporte y Recreación, 2013, v. 23, p. 43
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- Publication type:
- Article
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
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- PLoS ONE, 2024, v. 19, n. 5, p. 1, doi. 10.1371/journal.pone.0297914
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- Publication type:
- Article
Sudden death due to catecholaminergic polymorphic ventricular tachycardia following negative stress-test outcome: genetics and clinical implications.
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- Forensic Science, Medicine & Pathology, 2017, v. 13, n. 2, p. 217, doi. 10.1007/s12024-017-9862-9
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- Publication type:
- Article
Juvenile myoclonic epilepsy and Brugada type 1 ECG pattern associated with (a novel) plakophillin 2 mutation.
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- 2017
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- Publication type:
- Letter
Sudden Death without a Clear Cause after Comprehensive Investigation: An Example of Forensic Approach to Atypical/Uncertain Findings.
- Published in:
- Diagnostics (2075-4418), 2021, v. 11, n. 5, p. 886, doi. 10.3390/diagnostics11050886
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- Publication type:
- Article
Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology.
- Published in:
- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0114894
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- Publication type:
- Article
Stop-Gain Mutations in PKP2 Are Associated with a Later Age of Onset of Arrhythmogenic Right Ventricular Cardiomyopathy.
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- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0100560
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- Publication type:
- Article
A Novel Missense Mutation, I890T, in the Pore Region of Cardiac Sodium Channel Causes Brugada Syndrome.
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- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0053220
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- Publication type:
- Article
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.
- Published in:
- Human Genetics, 2022, v. 141, n. 10, p. 1579, doi. 10.1007/s00439-021-02370-4
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- Publication type:
- Article
Incomplete Penetrance and Variable Expressivity: Hallmarks in Channelopathies Associated with Sudden Cardiac Death.
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- Biology (2079-7737), 2018, v. 7, n. 1, p. 3, doi. 10.3390/biology7010003
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- Publication type:
- Article
Short QT syndrome in pediatrics.
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- Clinical Research in Cardiology, 2017, v. 106, n. 6, p. 393, doi. 10.1007/s00392-017-1094-1
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- Publication type:
- Article
Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy.
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- Clinical Research in Cardiology, 2015, v. 104, n. 4, p. 288, doi. 10.1007/s00392-014-0794-z
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- Publication type:
- Article
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
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- PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0181465
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- Publication type:
- Article
Correction: Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
- Published in:
- 2017
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- Publication type:
- Correction Notice
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
- Published in:
- PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0167358
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- Publication type:
- Article
Large Genomic Imbalances in Brugada Syndrome.
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- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0163514
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- Publication type:
- Article
Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.
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- International Journal of Legal Medicine, 2023, v. 137, n. 2, p. 345, doi. 10.1007/s00414-023-02951-0
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- Publication type:
- Article
Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing.
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- International Journal of Legal Medicine, 2016, v. 130, n. 2, p. 331, doi. 10.1007/s00414-015-1269-0
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- Publication type:
- Article
Sudden infant death syndrome caused by cardiac arrhythmias: only a matter of genes encoding ion channels?
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- International Journal of Legal Medicine, 2016, v. 130, n. 2, p. 415, doi. 10.1007/s00414-016-1330-7
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- Publication type:
- Article
Negative autopsy and sudden cardiac death.
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- International Journal of Legal Medicine, 2014, v. 128, n. 4, p. 599, doi. 10.1007/s00414-014-0966-4
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- Publication type:
- Article
Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00450
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- Publication type:
- Article
Valvulopathies and Genetics: Where are We?
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- Reviews in Cardiovascular Medicine, 2024, v. 25, n. 2, p. 1, doi. 10.31083/j.rcm2502040
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- Article
Genetic interpretation and clinical translation of minor genes related to Brugada syndrome.
- Published in:
- Human Mutation, 2019, v. 40, n. 6, p. 749, doi. 10.1002/humu.23730
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- Publication type:
- Article
A Missense Mutation in the Sodium Channel β2 Subunit Reveals SCN2B as a New Candidate Gene for Brugada Syndrome.
- Published in:
- Human Mutation, 2013, v. 34, n. 7, p. 961, doi. 10.1002/humu.22328
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- Publication type:
- Article
Changes in Plasma Cholesterol Levels after Hospitalization for Acute Coronary Events.
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- Cardiology, 1996, v. 87, n. 3, p. 194, doi. 10.1159/000177086
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- Publication type:
- Article
Fruit Cuticle Composition in 'Arbequina' Olive: Time–Course Changes along On-Tree Ripening under Irrigated and Rain-Fed Conditions.
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- Horticulturae, 2023, v. 9, n. 3, p. 394, doi. 10.3390/horticulturae9030394
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- Publication type:
- Article
Firmness and Cell Wall Changes during Maturation of 'Arbequina' Olive Fruit: The Impact of Irrigation.
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- Horticulturae, 2022, v. 8, n. 10, p. N.PAG, doi. 10.3390/horticulturae8100872
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- Publication type:
- Article
Structural Heart Alterations in Brugada Syndrome: Is it Really a Channelopathy? A Systematic Review.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 15, p. 4406, doi. 10.3390/jcm11154406
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- Publication type:
- Article
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 10, p. 1035, doi. 10.3390/jcm8071035
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- Publication type:
- Article
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 7, p. 1035, doi. 10.3390/jcm8071035
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- Publication type:
- Article
Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 2, p. N.PAG, doi. 10.3390/jpm12020241
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- Publication type:
- Article
Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later.
- Published in:
- Journal of Personalized Medicine, 2021, v. 11, n. 3, p. 162, doi. 10.3390/jpm11030162
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- Publication type:
- Article
Malignant Arrhythmogenic Role Associated with RBM20 : A Comprehensive Interpretation Focused on a Personalized Approach.
- Published in:
- Journal of Personalized Medicine, 2021, v. 11, n. 2, p. 130, doi. 10.3390/jpm11020130
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- Publication type:
- Article
Sudden Arrhythmic Death During Exercise: A Post-Mortem Genetic Analysis.
- Published in:
- Sports Medicine, 2017, v. 47, n. 10, p. 2101, doi. 10.1007/s40279-017-0705-3
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- Publication type:
- Article
Front Cover: Integration of "Omics" Strategies for Biomarkers Discovery and for the Elucidation of Molecular Mechanisms Underlying Brugada Syndrome.
- Published in:
- Proteomics - Clinical Applications, 2018, v. 12, n. 6, p. N.PAG, doi. 10.1002/prca.201870050
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- Publication type:
- Article
Integration of "Omics" Strategies for Biomarkers Discovery and for the Elucidation of Molecular Mechanisms Underlying Brugada Syndrome.
- Published in:
- Proteomics - Clinical Applications, 2018, v. 12, n. 6, p. N.PAG, doi. 10.1002/prca.201800065
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- Publication type:
- Article
Familial Dilated Cardiomyopathy Caused by a Novel Frameshift in the BAG3 Gene.
- Published in:
- PLoS ONE, 2016, v. 11, n. 7, p. 1, doi. 10.1371/journal.pone.0158730
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- Publication type:
- Article
Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0133037
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- Publication type:
- Article