Detalhe da pesquisa
1.
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Brain
; 146(2): 534-548, 2023 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35979925
2.
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.
HGG Adv
; 5(3): 100309, 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38751117
3.
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.
Eur J Hum Genet
; 31(11): 1228-1236, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36879111
4.
Alexander Disease Modeling in Zebrafish: An In Vivo System Suitable to Perform Drug Screening.
Genes (Basel)
; 11(12)2020 12 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33322348