Found: 8
Select item for more details and to access through your institution.
Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 7, p. 1473, doi. 10.1093/hmg/dds552
- By:
- Publication type:
- Article
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. 1513, doi. 10.1093/hmg/ddr589
- By:
- Publication type:
- Article
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.
- Published in:
- Nature Genetics, 2013, v. 45, n. 7, p. 822, doi. 10.1038/ng.2637
- By:
- Publication type:
- Article
Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot.
- Published in:
- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0095453
- By:
- Publication type:
- Article
Programmed death ligand 1 (PD-L1) gene variants contribute to autoimmune Addison's disease and Graves' disease susceptibility.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas.
- Published in:
- Human Genetics, 2017, v. 136, n. 9, p. 1303, doi. 10.1007/s00439-017-1833-4
- By:
- Publication type:
- Article
Hereditary cancer genes are highly susceptible to splicing mutations.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 3, p. 1, doi. 10.1371/journal.pgen.1007231
- By:
- Publication type:
- Article
Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development.
- Published in:
- Congenital Heart Disease, 2015, v. 10, n. 3, p. 193, doi. 10.1111/chd.12179
- By:
- Publication type:
- Article