Found: 13
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Pathologic and Molecular Analysis in a Family with Rare Mixed Supravalvar Aortic and Pulmonic Stenosis.
- Published in:
- Pediatric & Developmental Pathology, 2006, v. 9, n. 4, p. 297, doi. 10.2350/06-01-0014.1
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- Publication type:
- Article
A Functional Assay for Sick Sinus Syndrome Genetic Variants.
- Published in:
- Cellular Physiology & Biochemistry (Karger AG), 2017, v. 42, n. 5, p. 2021, doi. 10.1159/000479897
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- Publication type:
- Article
The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26741-7
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- Publication type:
- Article
Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2176, doi. 10.1002/ajmg.a.38309
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- Publication type:
- Article
Exome Analysis of a Family with Wolff-Parkinson-White Syndrome Identifies a Novel Disease Locus.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2975, doi. 10.1002/ajmg.a.37297
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- Publication type:
- Article
A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3137, doi. 10.1002/ajmg.a.35664
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- Article
Extracorporeal membrane oxygenation as a bridge to surgical treatment of flail tricuspid valve in a neonate.
- Published in:
- 2005
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- Publication type:
- journal article
Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR).
- Published in:
- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0131514
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- Publication type:
- Article
Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development.
- Published in:
- 2012
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- Correction Notice
Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 540, doi. 10.1038/ejhg.2010.245
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- Publication type:
- Article
Kawasaki disease patients homozygous for the rs12252-C variant of interferon-induced transmembrane protein-3 are significantly more likely to develop coronary artery lesions.
- Published in:
- Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 4, p. 356, doi. 10.1002/mgg3.79
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- Publication type:
- Article
Somatic mosaicism contributes to phenotypic variation in Timothy syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2578, doi. 10.1002/ajmg.a.34223
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- Publication type:
- Article
Kinetics of unfolding and folding from amide hydrogen exchange in native ubiquitin.
- Published in:
- Nature Structural Biology, 2001, v. 8, n. 4, p. 331, doi. 10.1038/86208
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- Publication type:
- Article