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1.
De novo mutations in Caudal Type Homeo Box transcription Factor 2 (CDX2) in patients with persistent cloaca.
Hum Mol Genet
; 27(2): 351-358, 2018 01 15.
Article
in English
| MEDLINE | ID: mdl-29177441
2.
A random forest-based framework for genotyping and accuracy assessment of copy number variations.
NAR Genom Bioinform
; 2(3): lqaa071, 2020 Sep.
Article
in English
| MEDLINE | ID: mdl-33575619
3.
Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing.
Eur J Hum Genet
; 26(6): 818-826, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29483666
4.
Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes.
BMC Med Genomics
; 9(1): 75, 2016 12 12.
Article
in English
| MEDLINE | ID: mdl-27955658
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