Detalhe da pesquisa
1.
TRANSPLANTATION OF SUBRETINAL STEM CELL-DERIVED RETINAL PIGMENT EPITHELIUM FOR STARGARDT DISEASE: A Phase I Clinical Trial.
Retina
; 43(2): 263-274, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36223778
2.
Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.
Ophthalmol Retina
; 8(2): 163-173, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37714431
3.
Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis.
Ophthalmic Genet
; 42(5): 553-560, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34157943
4.
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.
Ophthalmic Genet
; 42(6): 664-673, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34223797
5.
TUBGCP4 - associated microcephaly and chorioretinopathy.
Ophthalmic Genet
; 41(2): 189-193, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32270730
6.
ATP8A2-Related Disorder: Beyond Cerebellar Ataxia.
Mov Disord Clin Pract
; 10(8): 1215-1216, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37635783
7.
PROM1 gene variations in Brazilian patients with macular dystrophy.
Ophthalmic Genet
; 38(1): 39-42, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28095140