Detalhe da pesquisa
1.
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.
Hum Mutat
; 42(10): 1221-1228, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34212438
2.
Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome.
J Rare Dis (Berlin)
; 2(1): 9, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37288276
3.
The risk of colorectal cancer in individuals with mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: An English population-based study.
J Cyst Fibros
; 22(3): 499-504, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36253274