Detalhe da pesquisa
1.
Oncologist-led BRCA counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes.
J Med Genet
; 59(3): 220-229, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33526602
2.
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
Hum Mutat
; 42(1): 66-76, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131106
3.
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.
Mol Genet Genomic Med
; 5(1): 40-49, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28116329