Found: 25
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PMUT: a web-based tool for the annotation of pathological mutations on proteins.
- Published in:
- Bioinformatics, 2005, v. 21, n. 14, p. 3176, doi. 10.1093/bioinformatics/bti486
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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.
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- PLoS ONE, 2018, v. 13, n. 7, p. 1, doi. 10.1371/journal.pone.0200756
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- 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
High-quality RNA improves sensitivity of SARS-CoV-2 detection by colorimetric RT-LAMP.
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- Experimental Biology & Medicine, 2022, v. 247, n. 4, p. 276, doi. 10.1177/15353702211054768
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- Publication type:
- Article
High-quality RNA improves sensitivity of SARS-CoV-2 detection by colorimetric RT-LAMP.
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- Experimental Biology & Medicine, 2022, v. 247, n. 3, p. 276, doi. 10.1177/15353702211054768
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- Publication type:
- Article
The catalytic site structural gate of adenosine deaminase allosterically modulates ligand binding to adenosine receptors.
- Published in:
- FASEB Journal, 2013, v. 27, n. 3, p. 1048, doi. 10.1096/fj.12-212621
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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
A fast method for the determination of fractional contributions to solvation in proteins.
- Published in:
- Protein Science: A Publication of the Protein Society, 2006, v. 15, n. 11, p. 2525, doi. 10.1110/ps.062406706
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- Article
Exploring Early Stages of the Chemical Unfolding of Proteins at the Proteome Scale.
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- PLoS Computational Biology, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pcbi.1003393
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- Article
Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology.
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- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0114894
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- Publication type:
- Article
Ultra-Deep Pyrosequencing Detects Conserved Genomic Sites and Quantifies Linkage of Drug-Resistant Amino Acid Changes in the Hepatitis B Virus Genome.
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- PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0037874
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- Publication type:
- 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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- Publication type:
- Article
Allosteric regulation of PKCθ: Understanding multistep phosphorylation and priming by ligands in AGC kinases.
- Published in:
- Proteins, 2012, v. 80, n. 1, p. 269, doi. 10.1002/prot.23205
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- Publication type:
- Article
Use of bioinformatics tools for the annotation of disease-associated mutations in animal models.
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- Proteins, 2005, v. 61, n. 4, p. 878, doi. 10.1002/prot.20664
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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.
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- 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
A clinical-genetic approach to assessing cardiovascular risk in patients with CKD.
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- Clinical Kidney Journal, 2017, v. 10, n. 5, p. 672, doi. 10.1093/ckj/sfx039
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- Publication type:
- Article
PupasView: a visual tool for selecting suitable SNPs, with putative pathological effect in genes, for genotyping purposes.
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- Nucleic Acids Research, 2005, v. 33, n. suppl 2, p. w501, doi. 10.1093/nar/gki476
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- Publication type:
- 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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- 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.
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- Journal of Personalized Medicine, 2021, v. 11, n. 3, p. 162, doi. 10.3390/jpm11030162
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- Article