Detalhe da pesquisa
1.
Common data elements for arthrogryposis multiplex congenita: An international framework.
Dev Med Child Neurol
; 2024 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38491830
2.
Effects of HMGCR deficiency on skeletal muscle development.
bioRxiv
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38903061
3.
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
medRxiv
; 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585825
4.
Corrigendum to "Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen"[ Eur. J. Paediatr. Neurol. (2021) 92-101].
Eur J Paediatr Neurol
; 37: 167-168, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34429249