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- 2020
- SLC20A1 Is Involved in Urinary Tract and Urorectal Development
- 2019
- Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene
- Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis
- 2017
- Self-assessed remission rates after electroconvulsive therapy of depressive disorders
- ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development
- 2015
- No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations.
- WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.
- 2014
- A Case with Bladder Exstrophy and Unbalanced X Chromosome Rearrangement
- Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.
- Genome-wide association study and mouse expression data identify a highly conserved 32kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.