Found: 11
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Mitochondrial DNA Variant Discovery and Evaluation in Human Cardiomyopathies through Next-Generation Sequencing.
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- PLoS ONE, 2010, v. 5, n. 8, p. 1, doi. 10.1371/journal.pone.0012295
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- Article
A Study of Gene Expression, Structure, and Contractility of iPSC-Derived Cardiac Myocytes from a Family with Heart Disease due to LMNA Mutation.
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- Annals of Biomedical Engineering, 2021, v. 49, n. 12, p. 3524, doi. 10.1007/s10439-021-02850-8
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- Article
A homozygous nonsense mutation inSOX9in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion.
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- Human Genetics, 2005, v. 117, n. 1, p. 43, doi. 10.1007/s00439-005-1295-y
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- Article
Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny.
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- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 200, doi. 10.1038/ejhg.2010.169
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- Article
Gene expression profiling of fibroblasts in a family with LMNA-related cardiomyopathy reveals molecular pathways implicated in disease pathogenesis.
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- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01088-w
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- Article
DNA methylation analysis reveals epimutation hotspots in patients with dilated cardiomyopathy-associated laminopathies.
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- Clinical Epigenetics, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13148-021-01127-0
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- Article
Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death.
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- PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0155421
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- Article
LMNA -Related Dilated Cardiomyopathy: Single-Cell Transcriptomics during Patient-Derived iPSC Differentiation Support Cell Type and Lineage-Specific Dysregulation of Gene Expression and Development for Cardiomyocytes and Epicardium-Derived Cells with Lamin A/C Haploinsufficiency
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- Cells (2073-4409), 2024, v. 13, n. 17, p. 1479, doi. 10.3390/cells13171479
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- Article
Dupuytren's and Ledderhose Diseases in a Family with LMNA-Related Cardiomyopathy and a Novel Variant in the ASTE1 Gene.
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- Cells (2073-4409), 2017, v. 6, n. 4, p. 40, doi. 10.3390/cells6040040
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- Article
Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations.
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- PLoS ONE, 2017, v. 12, n. 11, p. 1, doi. 10.1371/journal.pone.0188256
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- Article
Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation.
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- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-49
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- Article