Detalhe da pesquisa
1.
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
Genet Med
; 21(9): 2103-2115, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30967659
2.
Differential placental gene expression in term pregnancies affected by fetal growth restriction and macrosomia.
Fetal Diagn Ther
; 36(2): 173-80, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24685769
3.
Evaluation for Retinal Therapy for RPE65 Variation Assessed in hiPSC Retinal Pigment Epithelial Cells.
Stem Cells Int
; 2021: 4536382, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34938339