Showing results 1 to 6 of 6
Title | Author(s) | Issue Date | |
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Burden of rare variants in ALS genes influences survival in familial and sporadic ALS Journal:Neurobiology of Aging | 2017 | ||
Cancer gene mutations in congenital pulmonary airway malformation patients Journal:ERJ Open Research | 2019 | ||
De novo mutations in Caudal Type Homeo Box transcription Factor 2 (CDX2) in patients with persistent cloaca Journal:Human Molecular Genetics | 2018 | ||
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 |