Showing results 1 to 20 of 25
next >
| Title | Author(s) | Issue Date | |
|---|---|---|---|
ATP-binding cassette (ABC) transporter recessive mutations in biliary atresia cases Proceeding/Conference:American Society of Human Genetics (ASHG) 2019 Annual Meeting | 2019 | ||
Deciphering the genetic basis of Hirschsprung disease by whole genome sequencing Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2016 | 2016 | ||
Epidemiological and genetic analysis of Banglaeshi Hirschsprung disease patients (Poster presentation) Proceeding/Conference:The 5th International Symposium on Development of the Enteric Nervous System: cells, signals genes and therapy, 2018 | 2018 | ||
Evaluation of thyroid transcription factor 1 (TTF-1) as a Hirschsprung's disease (HSCR) locus by mutation analysis Proceeding/Conference:Annual Meeting of the Pacific Association of Pediatric Surgeons, PAPS 2006 | 2006 | ||
Evaluation of thyroid transcription factor 1 (TTF-1) as a Hirschsprung's disease (HSCR) locus by mutation analysis Proceeding/Conference:ENS 2006 Meeting | 2006 | ||
Exome sequencing reveals a recessive mechanism involving interacting genes in persistent cloaca Proceeding/Conference:Annual International Congress of the British Association of Paediatric Surgeons, BAPS 2016 | 2016 | ||
Fine mapping of Hirschsprung’s disease loci in 9q31 Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009 | 2009 | ||
Fine mapping of the NRG1 Hirschsprung's-associated gene Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2010 | 2010 | ||
Fine mapping on chromosome 10q24.2 implicates ADD3 in biliary atresia Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2012 | 2012 | ||
Gene network analysis of candidate loci for human anorectal malformations Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2013 | 2013 | ||
Genetic mapping for RET-dependent modifiers in Hirschsprung disease (HSCR) Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2006 | 2006 | ||
Genetic profile of a multiplex Hirschsprung disease family Proceeding/Conference:American Society of Human Genetics (ASHG) 2019 Annual Meeting | 2019 | ||
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease Proceeding/Conference:Neurogastroenterology and Motility | 2009 | ||
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3 Proceeding/Conference:International Congress of Human Genetics, ICHG 2011 | 2011 | ||
Genome-wide copy number variation in anorectal malformations Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2012 | 2012 | ||
Identification of rare variants in the NRG1 gene of Hirschsprung's patients Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009 | 2009 | ||
Integrating genetic analysis with phenotypes of biliary atresia Proceeding/Conference:European Human Genetics Conference, ESHG 2015 | 2015 | ||
De novo mutations associated with sporadic cases of Caudal regresion syndrome Proceeding/Conference:European Journal of Human Genetics | 2014 | ||
Rare variants in sporadic Hirschsprung disease patients Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2015 | 2015 | ||
A RET founder mutation in Chinese hirschsprung's patients Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009 | 2009 |