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Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.
- Published in:
- PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0189618
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- 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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- 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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- 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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- 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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- Article
Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 5836, doi. 10.3390/ijms25115836
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- Article
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.
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- Human Genetics, 2022, v. 141, n. 10, p. 1579, doi. 10.1007/s00439-021-02370-4
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- 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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- 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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- 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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- 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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- Article
Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies.
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00450
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- Article
Genetic interpretation and clinical translation of minor genes related to Brugada syndrome.
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- Human Mutation, 2019, v. 40, n. 6, p. 749, doi. 10.1002/humu.23730
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- Article
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.
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- Journal of Clinical Medicine, 2019, v. 8, n. 10, p. 1035, doi. 10.3390/jcm8071035
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- Article
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.
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- Journal of Clinical Medicine, 2019, v. 8, n. 7, p. 1035, doi. 10.3390/jcm8071035
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- Article
Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes.
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- Journal of Personalized Medicine, 2022, v. 12, n. 2, p. N.PAG, doi. 10.3390/jpm12020241
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- Article
Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later.
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- Journal of Personalized Medicine, 2021, v. 11, n. 3, p. 162, doi. 10.3390/jpm11030162
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- Article