Showing results 4 to 10 of 10
< previous
Title | Author(s) | Issue Date | |
---|---|---|---|
De novo mutations in Caudal Type Homeo Box transcription Factor 2 (CDX2) in patients with persistent cloaca Journal:Human Molecular Genetics | 2018 | ||
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 | ||
2021 | |||
2017 | |||
Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing Journal:European Journal of Human Genetics | 2018 | ||
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 | ||
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 |