Detalhe da pesquisa
1.
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
PLoS Genet
; 17(10): e1009848, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34662339
2.
Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy.
JAMA Ophthalmol
; 137(12): 1381-1388, 2019 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31580392
3.
Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent.
Ophthalmic Genet
; 39(1): 73-79, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-28945494
4.
Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31.
Invest Ophthalmol Vis Sci
; 55(4): 2121-9, 2014 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24595387
5.
Phenotype and genotype of patients with autosomal recessive bestrophinopathy.
Ophthalmic Genet
; 33(3): 123-9, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21809908