Detalhe da pesquisa
1.
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Am J Hum Genet
; 110(10): 1787-1803, 2023 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37751738
2.
Cell culture system to assay candidate genes and molecular pathways implicated in congenital diaphragmatic hernias.
Dev Biol
; 467(1-2): 30-38, 2020 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32827499
3.
Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias.
HGG Adv
; 1(1)2020 Oct 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33263113