Detalhe da pesquisa
1.
Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations.
Hum Mutat
; 34(2): 374-84, 2013 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-23111928
2.
Evaluation of eluforsen, a novel RNA oligonucleotide for restoration of CFTR function in in vitro and murine models of p.Phe508del cystic fibrosis.
PLoS One
; 14(6): e0219182, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31251792
3.
Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect.
Nat Med
; 25(2): 225-228, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30559420
4.
Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models.
Mol Ther Nucleic Acids
; 12: 730-740, 2018 Sep 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30114557