Found: 24
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Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 4031, doi. 10.3390/ijms24044031
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- Publication type:
- Article
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3814, doi. 10.1002/ajmg.a.62417
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- Publication type:
- Article
ABCB4 deficiency: A family saga of early onset cholelithiasis, sclerosing cholangitis and cirrhosis and a novel mutation in the ABCB4 gene.
- Published in:
- Hepatology Research, 2010, v. 40, n. 9, p. 937, doi. 10.1111/j.1872-034X.2010.00698.x
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- Publication type:
- Article
Beneficial Effects of Cardiomyopathy-Associated Genetic Variants on Physical Performance: A Hypothesis-Generating Scoping Review.
- Published in:
- Cardiology, 2022, v. 147, n. 1, p. 90, doi. 10.1159/000520471
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- Publication type:
- Article
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 8, p. 1, doi. 10.1038/ejhg.2010.243
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- Publication type:
- Article
A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 820, doi. 10.1038/ejhg.2011.33
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- Publication type:
- Article
Cardiomyocytes derived from embryonic stem cells resemble cardiomyocytes of the embryonic heart tube
- Published in:
- Cardiovascular Research, 2003, v. 58, n. 2, p. 399, doi. 10.1016/S0008-6363(03)00282-7
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- Publication type:
- Article
Development of heart muscle-cell diversity: a help or a hindrance for phenotyping embryonic stem cell-derived cardiomyocytes
- Published in:
- Cardiovascular Research, 2003, v. 58, n. 2, p. 303, doi. 10.1016/S0008-6363(03)00246-3
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- Publication type:
- Article
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.
- Published in:
- Netherlands Heart Journal, 2023, v. 31, n. 7/8, p. 300, doi. 10.1007/s12471-023-01798-9
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- Publication type:
- Article
The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy.
- Published in:
- 2018
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- Publication type:
- Letter
Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.
- Published in:
- European Journal of Heart Failure, 2013, v. 15, n. 6, p. 628, doi. 10.1093/eurjhf/hft013
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- Publication type:
- Article
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.
- Published in:
- European Journal of Heart Failure, 2012, v. 14, n. 11, p. 1199, doi. 10.1093/eurjhf/hfs119
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- Publication type:
- Article
Non-radioactive in situ detection of mRNA in ES cell-derived cardiomyocytes and in the developing heart.
- Published in:
- Microscopy Research & Technique, 2002, v. 58, n. 5, p. 387, doi. 10.1002/jemt.10154
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- Publication type:
- Article
Publisher Correction: Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Constitutional DNA-level aberrations in chromosome 22 in a patient with multiple meningiomas.
- Published in:
- Genes, Chromosomes & Cancer, 1994, v. 9, n. 2, p. 124, doi. 10.1002/gcc.2870090208
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- Publication type:
- Article
A mutation update for the FLNC gene in myopathies and cardiomyopathies.
- Published in:
- Human Mutation, 2020, v. 41, n. 6, p. 1091, doi. 10.1002/humu.24004
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- Publication type:
- Article
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.
- Published in:
- Human Mutation, 2019, v. 40, n. 12, p. 2230, doi. 10.1002/humu.23896
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- Publication type:
- Article
Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories.
- Published in:
- Human Mutation, 2013, v. 34, n. 10, p. 1313, doi. 10.1002/humu.22368
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- Publication type:
- Article
Novel tools for extraction and validation of disease-related mutations applied to fabry disease.
- Published in:
- 2010
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- Publication type:
- Other
Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-39911-x
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- Publication type:
- Article
Case series, chemotherapy-induced cardiomyopathy: mind the family history!
- Published in:
- European Heart Journal Case Reports, 2021, v. 5, n. 10, p. 1, doi. 10.1093/ehjcr/ytab333
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- Publication type:
- Article
Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.
- Published in:
- European Journal of Heart Failure. Supplements, 2017, v. 19, n. 4, p. 512, doi. 10.1002/ejhf.673
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- Publication type:
- Article