Detalhe da pesquisa
1.
Breaking the chains of lipoprotein lipase deficiency: A pediatric perspective on the efficacy and safety of Volanesorsen.
Mol Genet Metab
; 142(1): 108347, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38401382
2.
Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM.
BMC Med
; 21(1): 298, 2023 08 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37553648
3.
Correction: Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM.
BMC Med
; 21(1): 401, 2023 Oct 23.
Artigo
Inglês
| MEDLINE | ID: mdl-37872559
4.
Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability.
Ther Adv Rare Dis
; 5: 26330040241245721, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38681798
5.
Parkinsonism in Genetic Neurodevelopmental Disorders: A Systematic Review.
Mov Disord Clin Pract
; 10(1): 17-31, 2023 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-36699000
6.
Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders: The Power of 1.
Neurology
; 96(11): 529-540, 2021 03 16.
Artigo
Inglês
| MEDLINE | ID: mdl-33504638