Found: 16
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Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1387
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- Publication type:
- Article
A Comparison of Heritability Estimates by Classical Twin Modeling and Based on Genome-Wide Genetic Relatedness for Cardiac Conduction Traits.
- Published in:
- 2017
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- Publication type:
- journal article
Genome Wide Analysis of Drug-Induced Torsades de Pointes: Lack of Common Variants with Large Effect Sizes.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0078511
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- Article
Elite swimmers and the D allele of the ACE I/D polymorphism.
- Published in:
- Human Genetics, 2001, v. 108, n. 3, p. 230, doi. 10.1007/s004390100466
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- Publication type:
- Article
Heritability of QT Interval: How Much Is Explained by Genes for Resting Heart Rate?
- Published in:
- Journal of Cardiovascular Electrophysiology, 2008, v. 19, n. 4, p. 386, doi. 10.1111/j.1540-8167.2007.01030.x
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- Publication type:
- Article
The genetics of pro-arrhythmic adverse drug reactions.
- Published in:
- British Journal of Clinical Pharmacology, 2014, v. 77, n. 4, p. 618, doi. 10.1111/bcp.12208
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- Publication type:
- Article
Undernutrition in adolescence and risk of cardiovascular disease.
- Published in:
- European Heart Journal, 2012, v. 33, n. 4, p. 433, doi. 10.1093/eurheartj/ehr270
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- Publication type:
- Article
MicroRNA-153 targeting of KCNQ4 contributes to vascular dysfunction in hypertension.
- Published in:
- Cardiovascular Research, 2016, v. 112, n. 2, p. 581, doi. 10.1093/cvr/cvw177
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- Publication type:
- Article
Testicular expression of TDRD1, TDRD5, TDRD9 and TDRD12 in azoospermia.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0970-0
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- Publication type:
- Article
Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-44987-6
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- Publication type:
- Article
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H‐TM protein.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 5, p. 444, doi. 10.1111/cge.14203
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- Publication type:
- Article
Coagulation Gene Expression Profiling in Infants With Necrotizing Enterocolitis.
- Published in:
- 2016
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- Publication type:
- journal article
PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04766-9
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- Publication type:
- Article
Common STAT3 variants are not associated with obesity or insulin resistance in female twins.
- Published in:
- 2007
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- Publication type:
- journal article
The SH2B gene is associated with serum leptin and body fat in normal female twins.
- Published in:
- 2007
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- Publication type:
- journal article
B3GALNT2 mutations associated with nonsyndromic autosomal recessive intellectual disability reveal a lack of genotype- phenotype associations in the muscular dystrophy-dystroglycanopathies.
- Published in:
- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0505-2
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- Publication type:
- Article