Found: 12
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Whole-exome sequencing uncovers a novel EFEMP2 gene variant (c.C247T) associated with dominant nonsyndromic thoracic aortic aneurysm.
- Published in:
- Laboratory Medicine, 2024, v. 55, n. 4, p. 447, doi. 10.1093/labmed/lmad109
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- Article
Whole-exome sequencing reveals a likely pathogenic LMNA variant causing hypertrophic cardiomyopathy.
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- Laboratory Medicine, 2024, v. 55, n. 1, p. 62, doi. 10.1093/labmed/lmad038
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- Article
Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia.
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- Laboratory Medicine, 2022, v. 53, n. 6, p. 640, doi. 10.1093/labmed/lmac040
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- Article
A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects.
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- European Journal of Medical Research, 2022, v. 27, n. 1, p. 1, doi. 10.1186/s40001-022-00920-8
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- Article
A novel likely pathogenic variant in the FBXO32 gene associated with dilated cardiomyopathy according to whole‑exome sequencing.
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- BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01388-5
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- Article
Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01780-9
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- Article
Role of non‐coding variants in cardiovascular disease.
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- Journal of Cellular & Molecular Medicine, 2023, v. 27, n. 12, p. 1621, doi. 10.1111/jcmm.17762
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- Article
A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features.
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- BMC Cardiovascular Disorders, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12872-023-03676-z
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- Article
Is There Any Association Between the MEF2A Gene Changes and Coronary Artery Disease?
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- Acta Medica Iranica, 2020, v. 58, n. 8, p. 366
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- Article
Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-56154-7
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- Article
A comprehensive in silico analysis, distribution and frequency of human Nkx2-5 mutations; A critical gene in congenital heart disease.
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- Journal of Cardiovascular & Thoracic Research, 2019, v. 11, n. 4, p. 287, doi. 10.15171/jcvtr.2019.47
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- Article
A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report.
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- BMC Musculoskeletal Disorders, 2024, v. 25, p. 1, doi. 10.1186/s12891-024-07354-9
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- Article