Detalhe da pesquisa
1.
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.
BMC Med Genet
; 17(1): 66, 2016 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27634379
2.
Post-hoc Nonparametric Analysis of Forced Vital Capacity in the COMET Trial Demonstrates Superiority of Avalglucosidase Alfa vs Alglucosidase Alfa.
J Neuromuscul Dis
; 11(2): 369-374, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38160363
3.
Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism.
Neurol Genet
; 5(6): e372, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31872053