Found: 8
Select item for more details and to access through your institution.
Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 5, p. 861, doi. 10.1093/hmg/ddn411
- By:
- Publication type:
- Article
Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 6, p. 811, doi. 10.1038/ejhg.2008.255
- By:
- Publication type:
- Article
Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders.
- Published in:
- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00396-x
- By:
- Publication type:
- Article
Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.
- Published in:
- Genome Medicine, 2017, v. 9, p. 14, doi. 10.1186/s13073-017-0482-5
- By:
- Publication type:
- Article
SNP genotyping to screen for a common deletion in CHARGE Syndrome.
- Published in:
- BMC Medical Genetics, 2005, v. 6, p. 8, doi. 10.1186/1471-2350-6-8
- By:
- Publication type:
- Article
A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 11, p. 2331, doi. 10.1093/hmg/ddw071
- By:
- 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
- By:
- Publication type:
- Article
Handing the pen to the patient: Reflective writing for children and families affected by genetic conditions.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3021, doi. 10.1002/ajmg.a.36776
- By:
- Publication type:
- Article