Detalhe da pesquisa
1.
Safety and efficacy of gene therapy with onasemnogene abeparvovec in the treatment of spinal muscular atrophy: A systematic review and meta-analysis.
J Paediatr Child Health
; 59(3): 431-438, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36722610
2.
Streptococcal infection and immune response in children with Tourette's syndrome.
Childs Nerv Syst
; 31(7): 1157-63, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25930720
3.
Phenotypic and genotypic characterization of NPRL3-related epilepsy: Two case reports and literature review.
Epilepsia Open
; 9(1): 33-40, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37902097
4.
[Diagnostic value of serum Cystatin C in renal function impairments in children with viral encephalitis].
Zhongguo Dang Dai Er Ke Za Zhi
; 13(2): 119-22, 2011 Feb.
Artigo
em Chinês
| MEDLINE | ID: mdl-21342620
5.
Case Report: Christianson Syndrome Caused by SLC9A6 Mutation: From Case to Genotype-Phenotype Analysis.
Front Genet
; 12: 783841, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34987551
6.
HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration.
J Genet Genomics
; 48(8): 727-736, 2021 08 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34334354
7.
A graphene oxide-aided triple helical aggregation-induced emission biosensor for highly specific detection of charged collagen peptides.
J Mater Chem B
; 8(28): 6027-6033, 2020 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32568343