Detalhe da pesquisa
1.
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
Am J Hum Genet
; 100(4): 592-604, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28285769
2.
New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.
Hum Mol Genet
; 23(21): 5774-80, 2014 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24916380
3.
Analysis of the ABCA4 genomic locus in Stargardt disease.
Hum Mol Genet
; 23(25): 6797-806, 2014 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25082829
4.
Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype.
Ophthalmology
; 121(9): 1773-82, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24811962
5.
Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy.
Ophthalmic Genet
; 36(3): 270-5, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25687216
6.
New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.
JAMA Ophthalmol
; 133(2): 133-9, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25356532