Detalhe da pesquisa
1.
New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome.
BMC Ophthalmol
; 22(1): 386, 2022 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36162988
2.
De novel heterozygous copy number deletion on 7q31.31-7q31.32 involving TSPAN12 gene with familial exudative vitreoretinopathy in a Chinese family.
Int J Ophthalmol
; 16(12): 1952-1961, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38111929
3.
Identification of a novel FOXL2 mutation in a fourth-generation Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome.
Int J Ophthalmol
; 14(4): 504-509, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33875939