Browsing "Department of Psychiatry" by Author so, mt

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TitleAuthor(s)Issue Date
 
2020
 
2018
 
ATP-binding cassette (ABC) transporter recessive mutations in biliary atresia cases
Proceeding/Conference:American Society of Human Genetics (ASHG) 2019 Annual Meeting
2019
 
2019
 
2014
 
2018
 
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
 
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
 
2010
 
2011
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
 
2016
 
2010
2009
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
Proceeding/Conference:International Congress of Human Genetics, ICHG 2011
2011