Showing results 1 to 7 of 7
| Title | Author(s) | Issue Date | |
|---|---|---|---|
Comprehensive comparison of copy number variations detection using Illumina Omni 2.5M and Affymetrix CytoScan® arrays Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2013 | 2013 | ||
Exonic de novo mutations in sporadic Hirschsprung disease Proceeding/Conference:European Journal of Human Genetics | 2014 | ||
Integrative genomic profile for a patient with Hirschsprung disease Proceeding/Conference:Conference of the International Rare Diseases Research Consortium, IRDiRC 2014 | 2014 | ||
Patterns and rates of exonic de novo mutations in sporadic Hirschsprung disease patients Proceeding/Conference:European Journal of Human Genetics | 2013 | ||
Perturbed SUFU-GLI-SOX10 regulatory network underlies defective enteric nervous system development and Hirschsprung disease Proceeding/Conference:International Symposium on ENS Meeting | 2015 | ||
| 2015 | |||
Trans-ethnic meta-analysis of Hirschsprung disease Proceeding/Conference:European Human Genetics Conference, ESHG 2016 | 2016 |