Found: 9
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Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1837, doi. 10.1002/humu.24443
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- Article
Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.
- Published in:
- JAMA Network Open, 2019, p. e192129, doi. 10.1001/jamanetworkopen.2019.2129
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- Article
Clinical diversity of MYH7‐related cardiomyopathies: Insights into genotype–phenotype correlations.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 365, doi. 10.1002/ajmg.a.61017
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- Article
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
- Published in:
- Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0038-y
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- Article
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death
- Published in:
- Human Genomics, 2015, v. 9, n. 1, p. 15, doi. 10.1186/s40246-015-0038-y
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- Publication type:
- Article
Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology.
- Published in:
- BMC Bioinformatics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2105-15-248
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- Article
Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin ( MYH7) Distal Myopathy.
- Published in:
- Human Mutation, 2014, v. 35, n. 7, p. 868, doi. 10.1002/humu.22553
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- Article
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
- Published in:
- Genome Biology, 2014, v. 15, n. 2, p. R53, doi. 10.1186/gb-2014-15-3-r53
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- Publication type:
- Article
Mutations of tropomyosin 3 ( TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
- Published in:
- Human Mutation, 2010, v. 31, n. 2, p. 176, doi. 10.1002/humu.21157
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- Article