Detalhe da pesquisa
1.
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Sci Rep
; 11(1): 1526, 2021 01 15.
Artigo
Inglês
| MEDLINE | ID: mdl-33452396
2.
The anti/syn conformation of 8-oxo-7,8-dihydro-2'-deoxyguanosine is modulated by Bacillus subtilis PolX active site residues His255 and Asn263. Efficient processing of damaged 3'-ends.
DNA Repair (Amst)
; 52: 59-69, 2017 04.
Artigo
Inglês
| MEDLINE | ID: mdl-28254425
3.
A SCN4A mutation causing paramyotonia congenita.
Neuromuscul Disord
; 27(12): 1123-1125, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-29111379
4.
Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Sci Rep
; 11(1): 10340, 2021 May 10.
Artigo
Inglês
| MEDLINE | ID: mdl-33972629