Detalhe da pesquisa
1.
EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.
Hum Mutat
; 39(2): 177-186, 2018 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29159838
2.
In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery.
Hum Mol Genet
; 25(12): 2552-2563, 2016 06 15.
Artigo
Inglês
| MEDLINE | ID: mdl-27106101
3.
Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding.
Biochim Biophys Acta
; 1842(7): 1010-6, 2014 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-24631656
4.
Development and validation of an early warning score to identify COVID-19 in the emergency department based on routine laboratory tests: a multicentre case-control study.
BMJ Open
; 12(8): e059111, 2022 08 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35922102
5.
Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy.
Invest Ophthalmol Vis Sci
; 60(6): 2049-2063, 2019 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31074760
6.
C2orf71a/pcare1 is important for photoreceptor outer segment morphogenesis and visual function in zebrafish.
Sci Rep
; 8(1): 9675, 2018 06 26.
Artigo
Inglês
| MEDLINE | ID: mdl-29946172
7.
Eyes shut homolog is important for the maintenance of photoreceptor morphology and visual function in zebrafish.
PLoS One
; 13(7): e0200789, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30052645