Detalhe da pesquisa
1.
Mechanical ventilation in Duchenne muscular dystrophy: A pilot project in Ukraine.
Pediatr Int
; 64(1): e15225, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35727867
2.
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
Hum Mutat
; 36(4): 395-402, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604253
3.
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Nat Commun
; 13(1): 2306, 2022 04 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35484142
4.
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries.
Neurol Genet
; 7(1): e536, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33376799
5.
Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.
Orphanet J Rare Dis
; 14(1): 199, 2019 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31416449
6.
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.
Orphanet J Rare Dis
; 13(1): 155, 2018 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30185236