Detalhe da pesquisa
1.
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Hum Mutat
; 43(7): 832-858, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35332618
2.
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Genet Med
; 22(3): 598-609, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31700164
3.
Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1.
Hum Mol Genet
; 26(1): 133-144, 2017 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28025326
4.
Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells.
Proc Natl Acad Sci U S A
; 112(20): E2630-9, 2015 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25941382
5.
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
PLoS One
; 11(1): e0145951, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26766544
6.
Quantitative Analysis of Fundus-Image Sequences Reveals Phase of Spontaneous Venous Pulsations.
Transl Vis Sci Technol
; 4(5): 3, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26396929