Detalhe da pesquisa
1.
Novel rare mutation in a conserved site of PTPRB causes human hypoplastic left heart syndrome.
Clin Genet
; 103(1): 79-86, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36148623
2.
[Genetic analysis of a Chinese pedigree affected with branchiootic syndrome due to a nonsense variant of EYA1 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(4): 374-377, 2022 Apr 10.
Artigo
em Zh
| MEDLINE | ID: mdl-35446969
3.
A mutation of EYA1 gene in a Chinese Han family with Branchio-Oto syndrome.
Medicine (Baltimore)
; 100(25): e24691, 2021 Jun 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34160378