Showing results 1 to 5 of 5
Title | Author(s) | Issue Date | Views | |
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A random forest-based framework for genotyping and accuracy assessment of copy number variations Journal:NAR Genomics and Bioinformatics | 2020 | |||
De novo mutations in Caudal Type Homeo Box transcription Factor 2 (CDX2) in patients with persistent cloaca Journal:Human Molecular Genetics | 2018 | 32 | ||
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 | ||
2016 | ||||
Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing Journal:European Journal of Human Genetics | 2018 | 65 |