Detalhe da pesquisa
1.
Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.
Brain
; 146(3): 880-897, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36380488
2.
Genome-wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targets.
Hum Mutat
; 40(12): 2184-2196, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31379106
3.
Structural Variation at a Disease Mutation Hotspot: Strategies to Investigate Gene Regulation and the 3D Genome.
Front Genet
; 13: 842860, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35401663
4.
CSA-90 reduces periprosthetic joint infection in a novel rat model challenged with local and systemic Staphylococcus aureus.
J Orthop Res
; 38(9): 2065-2073, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32009241
5.
C. elegans model of riboflavin transporter deficiency (RTD) disorder reveals deficits in synaptic transmission and movement.
Genes Dis
; 11(4): 101071, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38515939