Browsing "Psychiatry: Conference papers" by Author So, MT

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Showing results 1 to 17 of 17
TitleAuthor(s)Issue DateViews
 
Whole genome sequencing implicates rare variants in sporadic Hirschsprung disease (Abstract and Poster Presentation)
Proceeding/Conference:European Human Genetics Conference (ESHG) 2017, Copenhagen, Denmark, 27-30 May 2017
2017
25
RET mutational spectrum in Hirschsprungs disease: evaluation of 601 Chinese patients
Proceeding/Conference:International Congress of Human Genetics, ICHG 2011
2011
106
 
A RET founder mutation in Chinese hirschsprung's patients
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009
2009
122
 
Rare variants in sporadic Hirschsprung disease patients
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2015
2015
79
 
De novo mutations associated with sporadic cases of Caudal regresion syndrome
Proceeding/Conference:European Journal of Human Genetics
2014
53
 
Integrating genetic analysis with phenotypes of biliary atresia
Proceeding/Conference:European Human Genetics Conference, ESHG 2015
2015
47
 
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
101
Genome-wide copy number variation in anorectal malformations
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2012
2012
68
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
Proceeding/Conference:International Congress of Human Genetics, ICHG 2011
2011
120
2009
429
 
Genetic mapping for RET-dependent modifiers in Hirschsprung disease (HSCR)
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2006
2006
64
 
Gene network analysis of candidate loci for human anorectal malformations
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2013
2013
61
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
82
Fine mapping of the NRG1 Hirschsprung's-associated gene
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2010
2010
57
 
Fine mapping of Hirschsprung’s disease loci in 9q31
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009
2009
107
 
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
23
 
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
22