Found: 20
Select item for more details and to access through your institution.
Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 9, p. 1, doi. 10.1002/mgg3.2234
- By:
- Publication type:
- Article
Dietary and Antioxidant Vitamins Limit the DNA Damage Mediated by Oxidative Stress in the Mother–Newborn Binomial.
- Published in:
- Life (2075-1729), 2022, v. 12, n. 7, p. 1012, doi. 10.3390/life12071012
- 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
The TATA-box motif and its impact on transcriptional gene regulation by miRNAs.
- Published in:
- Biomolecular Concepts, 2015, v. 6, n. 2, p. 157, doi. 10.1515/bmc-2015-0004
- By:
- Publication type:
- Article
VHL mutation as a cause of three generations familial pheochromocytoma.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Ontogeny of the facial phenotypic variability in Mexican patients with 22q11.2 deletion syndrome.
- Published in:
- Head & Face Medicine, 2019, v. 15, n. 1, p. 1, doi. 10.1186/s13005-019-0213-9
- By:
- Publication type:
- Article
Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot.
- Published in:
- BMC Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2156-14-57
- By:
- Publication type:
- Article
High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1551, doi. 10.1093/hmg/ddt542
- By:
- Publication type:
- Article
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
Implementation of high‐resolution melting analysis of the porcupine (PORCN) gene for molecular diagnosis of focal dermal hypoplasia: Identification of a novel mutation.
- Published in:
- Journal of Gene Medicine, 2020, v. 22, n. 5, p. 1, doi. 10.1002/jgm.3165
- By:
- Publication type:
- Article
Identification of human miR‐1839‐5p by small RNA‐seq, a miRNA enriched in neoplastic tissues.
- Published in:
- Journal of Gene Medicine, 2019, v. 21, n. 10, p. N.PAG, doi. 10.1002/jgm.3117
- By:
- Publication type:
- Article
A single miRNA and miRNA sponge expression system for efficient modulation of miR‐223 availability in mammalian cells.
- Published in:
- Journal of Gene Medicine, 2019, v. 21, n. 8, p. N.PAG, doi. 10.1002/jgm.3100
- By:
- Publication type:
- Article
CRISPR/Cas13-Based Approaches for Ultrasensitive and Specific Detection of microRNAs.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 7, p. 1655, doi. 10.3390/cells10071655
- By:
- Publication type:
- Article
Combined Mutation Screening of NKX2-5, GATA4, and TBX5 in Congenital Heart Disease: Multiple Heterozygosity and Novel Mutations.
- Published in:
- Congenital Heart Disease, 2012, v. 7, n. 2, p. 151, doi. 10.1111/j.1747-0803.2011.00573.x
- By:
- Publication type:
- Article
α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 20, p. 4007, doi. 10.1093/hmg/ddq315
- By:
- Publication type:
- Article
Alpha-cardiac actin mutations produce atrial septal defects.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 2, p. 256, doi. 10.1093/hmg/ddm302
- By:
- Publication type:
- Article
Genotyping of the Major SARS-CoV-2 Clade by Short-Amplicon High-Resolution Melting (SA-HRM) Analysis.
- Published in:
- Genes, 2021, v. 12, n. 4, p. 531, doi. 10.3390/genes12040531
- By:
- Publication type:
- Article
Formation, Contraction, and Mechanotransduction of Myofribrils in Cardiac Development: Clues from Genetics.
- Published in:
- Biotechnology Research International, 2012, p. 1, doi. 10.1155/2012/504906
- By:
- Publication type:
- Article
Diet and Maternal Obesity Are Associated with Increased Oxidative Stress in Newborns: A Cross-Sectional Study.
- Published in:
- Nutrients, 2022, v. 14, n. 4, p. 746, doi. 10.3390/nu14040746
- By:
- Publication type:
- Article