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| Title | Author(s) | Issue Date | Views | |
|---|---|---|---|---|
Whole genome sequencing implicates rare variants in sporadic Hirschsprung disease Proceeding/Conference:European Human Genetics Conference (ESHG) 2017 | 2017 | |||
Whole exome sequencing reveals a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia Proceeding/Conference:The 67th Annual Congress of the British Association of Paediatric Surgeons (Virtual), U.K. 7-9 July 2022 | 2021 | 11 | ||
Whole exome sequencing analysis in biliary atresia: a follow-up study Proceeding/Conference:68th Annual Meeting of the American Society of Human Genetics, 2018 | 2018 | 51 | ||
RET mutational spectrum in Hirschsprungs disease: evaluation of 601 Chinese patients Proceeding/Conference:International Congress of Human Genetics, ICHG 2011 | 2011 | |||
A RET founder mutation in Chinese hirschsprung's patients Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009 | 2009 | 194 | ||
Rare variants in sporadic Hirschsprung disease patients Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2015 | 2015 | 91 | ||
De novo mutations associated with sporadic cases of Caudal regresion syndrome Proceeding/Conference:European Journal of Human Genetics | 2014 | 71 | ||
Integrating genetic analysis with phenotypes of biliary atresia Proceeding/Conference:European Human Genetics Conference, ESHG 2015 | 2015 | 61 | ||
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 | 163 | ||
Genome-wide copy number variation in anorectal malformations Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2012 | 2012 | 90 | ||
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3 Proceeding/Conference:International Congress of Human Genetics, ICHG 2011 | 2011 | |||
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease Proceeding/Conference:Neurogastroenterology and Motility | 2009 | 382 | ||
Genetic profile of a multiplex Hirschsprung disease family Proceeding/Conference:American Society of Human Genetics (ASHG) 2019 Annual Meeting | 2019 | 103 | ||
Genetic mapping for RET-dependent modifiers in Hirschsprung disease (HSCR) Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2006 | 2006 | 119 | ||
Gene network analysis of candidate loci for human anorectal malformations Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2013 | 2013 | 71 | ||
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 | 65 | ||
Fine mapping of the NRG1 Hirschsprung's-associated gene Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2010 | 2010 | 93 | ||
Fine mapping of Hirschsprung’s disease loci in 9q31 Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009 | 2009 | |||
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 | 74 | ||
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 | 108 |